Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G333R
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ATP7B

NM_000053.4:p.G333R

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

ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.

Wallace DF et al.

Human Genetics, 2020

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Singh N et al.

Plos One, 2019

31059521 (PubMed )
Supplement: pone.0215779.s001.pdf

Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.

Gupta A et al.

Cellular and Molecular Neurobiology, 2007

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