Associated Papers
Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns.
Gold NB et al.
Hgg Advances, 2022
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated
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