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
Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability.
Rangel-Sosa MM et al.
Clinical Genetics, 2018
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