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
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
Philips AK et al.
Orphanet Journal of Rare Diseases, 2014
24721225 (PubMed )
Supplement: 1750-1172-9-49-S1.xls › Sheet1
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