Associated Papers
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Identification of a novel heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) in a labor induced fetus with CHARGE syndrome.
Song X et al.
Molecular Genetics & Genomic Medicine, 2020
SEMA3E mutation in a patient with CHARGE syndrome.
Lalani SR et al.
Journal of Medical Genetics, 2004
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