Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases
Author:
Publisher
Elsevier BV
Subject
Genetics,Biochemistry, Genetics and Molecular Biology (miscellaneous)
Reference44 articles.
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1. Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes;American Journal of Medical Genetics Part A;2023-11-06
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