Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.R136G
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ATP7B

NM_000053.4:p.R136G

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

Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations.

Sriretnakumar V et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2019

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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