Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants
Author:
Funder
National Institutes of Health
Publisher
Elsevier BV
Subject
Molecular Medicine,Pathology and Forensic Medicine
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1. Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows;Genes;2022-09-15
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