Varaico: Literature-Extracted Genetic Variants

Gene:FTH1
Variant:p.Y55F
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FTH1

NM_002032.3:p.Y55F

Associated Papers

A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.

Bohn E et al.

Frontiers in Molecular Biosciences, 2023

Role of active-site residues Tyr55 and Tyr114 in catalysis and substrate specificity of Corynebacterium diphtheriae C-S lyase.

Astegno A et al.

Proteins, 2015

Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.

McDonald CJ et al.

Journal of Gastroenterology and Hepatology, 2013

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