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  1. 8641
    “…Following polymorphism calling and filtering, validation by manual check and Sanger sequencing, we identified that SymCRK is the causative gene of white nodule mutant. …”
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    Rapid identification of mutations caused by fast neutron bombardment in Medicago truncatula
  2. 8642
    “…A subset of the participants had baseline HIV drug resistance (HIVDR) genotyped using Sanger sequencing. RESULTS: The participants’ median (interquartile range (IQR)) age was 18.1 (IQR: 15.1–20.0) years and half (50.5%, n = 107) were male. …”
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    The transient effect of a peer support intervention to improve adherence among adolescents and young adults failing antiretroviral therapy in Harare, Zimbabwe: a randomized control trial
  3. 8643
    “…All those alterations were found applying either targeted NGS of a custom gene panel or PCR followed by Sanger sequencing and evaluated using in silico predictors. …”
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    Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene
  4. 8644
    “…The whole exome sequencing (WES) was performed to detect the candidate gene, and the Sanger sequencing was used to confirm the causative variation. …”
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    Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1
  5. 8645
    “…We identified a heterozygous 4‐bp deletion in the Profilin 1 (PFN1) gene (c.318_321delTGAC) by genetic linkage analysis and exome sequencing for the family. Sanger sequencing revealed another heterozygous 1‐bp deletion in PFN1 (c.324_324delG) in a sporadic early‐onset PDB/GCT patient, further proving its causative role. …”
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    Mutations in Profilin 1 Cause Early‐Onset Paget's Disease of Bone With Giant Cell Tumors
  6. 8646
    “…METHODS: Forty MIBC patients were enrolled in this study, in which 33 were successfully examined by WES and Sanger sequencing in the discovery cohort (n=13) and the validation cohort (n=20), respectively. …”
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    Mutations of METTL3 predict response to neoadjuvant chemotherapy in muscle-invasive bladder cancer
  7. 8647
    “…This fusion was further confirmed by nested reverse transcription polymerase chain reaction amplification followed by Sanger sequencing. A diagnosis of fibrosarcomatous DFSP was rendered and the patient was in good status at a follow-up of 12 months after the operation. …”
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    Novel TNC-PDGFD fusion in fibrosarcomatous dermatofibrosarcoma protuberans: a case report
  8. 8648
    “…The exonic sequences of CACNA1A were analyzed using a Tru-seq® Custom Amplicon (TSCA) (Illumina Inc., San Diego, CA) targeted capture and paired end library kit. Sanger sequencing was used to confirm CACNA1A variants and segregation analysis. …”
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    CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report
  9. 8649
    “…The nucleotide sequence of the amplicons was determined by Sanger sequencing and phylogenetic analysis was performed by neighbor-joining method. …”
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    Emergence of equine-like G3 strains as the dominant rotavirus among children under five with diarrhea in Sabah, Malaysia  during 2018–2019
  10. 8650
    “…Continued real-time information on the highly dynamic composition and trajectory of different SARS-CoV-2 lineages is essential to future control efforts FUNDING: National Institute for Health Research, Medicines and Healthcare products Regulatory Agency, DeepMind, EPSRC, EA Funds programme, Open Philanthropy, Academy of Medical Sciences Bill,Melinda Gates Foundation, Imperial College Healthcare NHS Trust, The Novo Nordisk Foundation, MRC Centre for Global Infectious Disease Analysis, Community Jameel, Cancer Research UK, Imperial College COVID-19 Research Fund, Medical Research Council, Wellcome Sanger Institute.…”
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    Changing composition of SARS-CoV-2 lineages and rise of Delta variant in England
  11. 8651
    “…METHODS: The MYH11 expression in GC was investigated via the SangerBox platform. MYH11 expression in GC tissues and cell lines was examined by immunohistochemistry, RT-qPCR, and western blot. …”
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    Interaction between DNMT3B and MYH11 via hypermethylation regulates gastric cancer progression
  12. 8652
    “…Whole-exome sequencing (WES) led to the identification of a homozygous splicing variant (c.981+1G>A) in POC1A gene of the patient, which was inherited from his heterozygous parents confirmed by Sanger sequencing. Further transcriptional experiments of the splicing variant revealed aberrant percentage of exon 9 skipping transcripts. …”
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    Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report
  13. 8653
    “…We focused on a wide range of beneficial bacteria, chose 1,299 colonies based on the reference map, and Sanger sequenced their 16S rRNA genes. These isolates clustered into 148 different bacterial taxa covering 28 genera. …”
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    Comprehensive Cultivation of the Swine Gut Microbiome Reveals High Bacterial Diversity and Guides Bacterial Isolation in Pigs
  14. 8654
    “…The hot spots mutation of IDH1/2, H3F3A, HIST1H3B, and TERT promoter and exon 2 and exon 3 of KRAS, HRAS, and NRAS were analysed with Sanger sequencing method, and 1p/19q codeletion was analysed with multiplex ligation-dependent probe amplification. …”
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    Infrequent RAS mutation is not associated with specific histological phenotype in gliomas
  15. 8655
    “…The detected mutation in proband and investigated family members was validated by PCR-Sanger sequencing. RESULTS: A novel heterozygous mutation, NM_198159.3:c.1026dup p.…”
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    Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation
  16. 8656
    “…Using exome sequencing and Sanger segregation analysis, here, two novel homozygous WIPI2 variants [c.551T>G; p.…”
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    Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course
  17. 8657
    “…The presence of HLA-G1 at the ROSA26 locus and the deletion of GGTA1 were confirmed by next generation sequencing (NGS) and Sanger’s sequencing. Fibroblasts from piglets, biopsies from transplantable organs, and islets were positive for HLA-G1 expression by confocal microscopy, flow cytometry, or q-PCR. …”
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    HLA-G1(+) Expression in GGTA1KO Pigs Suppresses Human and Monkey Anti-Pig T, B and NK Cell Responses
  18. 8658
    “…METHODS: Whole exome sequencing on an index patient with sporadic early-onset ataxia, followed by Sanger sequencing in all family members, was used to identify causative variants as well as to rule out alternative genetic hits and intronic STUB1 variants. …”
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    A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype
  19. 8659
    “…All variants were confirmed using Sanger sequencing. To determine the pathogenicity of these variants, functional studies were performed. …”
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    Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4
  20. 8660
    “…Variants were identified based on whole genome sequencing, partial sequencing by Sanger sequencing or PCR screening for selected targets. …”
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    Increased risk of hospitalisation and intensive care admission associated with reported cases of SARS-CoV-2 variants B.1.1.7 and B.1.351 in Norway, December 2020 –May 2021
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