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Diagnosing missed cases of spinal muscular atrophy in gen... | ResearchHub
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Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets
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Authors
Ben Weisburd
38 more
Ben Weisburd
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Rakshya Sharma
36 more
•
Anne O’Donnell-Luria
Published
December 1, 2024
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Journal
Genetics in Medicine
Topics
Biology
Bioinformatics
Medicine
Pathology
Genetics
Show all topics
DOI
10.1016/j.gim.2024.101336