Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.R312H
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GALK1

NM_000154.2:p.R312H

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

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

Irum B et al.

Plos One, 2016

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