Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.A595T
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ATP7B

NM_000053.4:p.A595T

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

Wilson's disease: update on pathogenesis, biomarkers and treatments.

Shribman S et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2021

Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.

Roy S et al.

Scientific Reports, 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

Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.

Mukherjee S et al.

Parkinsonism & Related Disorders, 2014

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