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  1. 2281
    “…The effect of disease-causing missense mutations on protein folding is difficult to evaluate. …”
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    In silico Mapping of Protein Unfolding Mutations for Inherited Disease
  2. 2282
    “…Analysis of the model shows that the target gene levels are robust to mutations in the transcription factor, and that the robustness improves as the degree of cooperativity in self-repression increases. …”
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    Cooperativity of Negative Autoregulation Confers Increased Mutational Robustness
  3. 2283
    “…CONTEXT: Isolated congenital central hypothyroidism (CeH) can result from mutations in TRHR, TSHB, and IGSF1, but its etiology often remains unexplained. …”
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    Mutations in TBL1X Are Associated With Central Hypothyroidism
  4. 2284
    “…A fundamental motif in canonical nucleic acid structure is the base pair. Mutations that disrupt base pairs are typically destabilizing, but stability can often be restored by a second mutation that replaces the original base pair with an isosteric variant. …”
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    Altered biochemical specificity of G-quadruplexes with mutated tetrads
  5. 2285
    “…In this study, whole exome sequencing in combination with segregation analysis was used to identify mutations in a novel gene, filamin C (FLNC), resulting in a cardiac-restricted DCM pathology. …”
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    FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy
  6. 2286
    “…These results will further our understanding of the mutation mechanism in rice as well as its evolutionary implications.…”
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    Neighboring-Nucleotide Effects on the Mutation Patterns of the Rice Genome
  7. 2287
    “…One of the hallmarks of cancer is the accumulation of driver mutations which increase the net reproductive rate of cancer cells and allow them to spread. …”
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    An exactly solvable, spatial model of mutation accumulation in cancer
  8. 2288
    “…This mini-review aims to provide an update on the identification and functional characterization of pyrethroid resistance-associated sodium channel mutations from Aedes aegypti. The collection of kdr mutations not only helped us develop molecular markers for resistance monitoring, but also provided valuable information for computational molecular modeling of pyrethroid receptor sites on the sodium channel.…”
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    Sodium Channel Mutations and Pyrethroid Resistance in Aedes aegypti
  9. 2289
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    Corrigendum: Modelling mutational landscapes of human cancers in vitro
  10. 2290
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    Targeted pharmacotherapy after somatic cancer mutation screening
  11. 2291
    “…We describe the mechanism of GT for the first time: some cases of GT are caused by IL36RN mutations, while those lacking mutations are associated with an imbalance in expression between IL-36Ra and IL-36γ proteins in tongue tissue. …”
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    Mutations in IL36RN are associated with geographic tongue
  12. 2292
    “…Parasites with esterase mutations are resistant to pepstatin esters and to an open source antimalarial compound, MMV011438. …”
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    Esterase mutation is a mechanism of resistance to antimalarial compounds
  13. 2293
    “…Mutations in ARX gene should be considered in patients with mental disability or/and epilepsy. …”
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    A novel mutation in the OAR domain of the ARX gene
  14. 2294
    “…BACKGROUND: The present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for the S65C mutation. …”
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    HLA haplotypes associated with hemochromatosis mutations in the Spanish population
  15. 2295
    “…Although this pathological Tub mutation leads to a loss of function, the precise mechanism has not yet been investigated. …”
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    C-terminally mutated tubby protein accumulates in aggresomes
  16. 2296
    “…Despite controversy on the correlation between p53 accumulation and TP53 mutational status, ihas long been used as a surrogate method for mutation analysis. …”
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    Immunohistochemical correlates of TP53 somatic mutations in cancer
  17. 2297
    “…Presence of CREBBP/NT5C2 mutations suggests that a personalized therapeutic approach should be applied to these two patients. …”
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    Mutational profiling of acute lymphoblastic leukemia with testicular relapse
  18. 2298
    “…We found that eight (14.5%) of the 54 FPC patients with available germline DNA carried deleterious mutations in BRCA2, PALB2, ATM, or MLH1. These results indicate that a significant fraction of patients with PDAC in Japan have a family history of pancreatic cancer, and some of them harbor deleterious causative mutations in known FPC predisposition genes.…”
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    Germline mutations in Japanese familial pancreatic cancer patients
  19. 2299
    “…But what if it were possible to control the rate with which antibiotic resistance evolves by de novo mutation? It seems that some bacteria may already do exactly that: they modify the rate at which they mutate to antibiotic resistance dependent on their biological environment. …”
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    Where antibiotic resistance mutations meet quorum-sensing
  20. 2300
    “…The findings of this study expand the mutational spectrum of OCA. Compound heterozygous mutations (c.832C>T and c.929_930insC) in the TYR gene may be responsible for partial clinical manifestations of OCA, while the homozygous missense mutation c.814G>A (p.Glu272Lys) in the SLC45A2 gene may not be associated with OCA.…”
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    Mutation analysis of a Chinese family with oculocutaneous albinism
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