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
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.
Kraus C et al.
American Journal of Medical Genetics. Part A, 2018
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