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Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression
SIMPLE SUMMARY: Phase analysis to distinguish between in cis and in trans heterozygous mutations is important for clinical diagnosis because in trans compound heterozygous mutations cause autosomal recessive diseases. However, conventional phase analysis is limited because of the large target size o...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8063809/ https://www.ncbi.nlm.nih.gov/pubmed/33804940 http://dx.doi.org/10.3390/biology10040256 |