Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.H919D
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ATP7B

NM_001005918.3:p.H919D

Associated Papers

WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

Vatsyayan A et al.

Plos One, 2024

38758754 (PubMed )
Supplement: pone.0303787.s016.xlsx › S4table

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.

Mak CM et al.

Journal of Human Genetics, 2008

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