RNA splicing analysis in genomic medicine
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Biochemistry
Reference120 articles.
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3. Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A;BMC Medical Genomics;2022-11-18
4. Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone;Human Genetics and Genomics Advances;2022-10
5. A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project;Genome Medicine;2022-07-26
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