Varaico: Literature-Extracted Genetic Variants

Gene:P4HA2
Variant:p.F218L
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P4HA2

NM_001017974.2:p.F218L

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

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

Rivas MA et al.

Nature Genetics, 2011

21983784 (PubMed )
Supplement: NIHMS335188-supplement-1.pdf
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