Associated Papers
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Shashi V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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