Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G1186R
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ATP7B

NM_000053.4:p.G1186R

Associated Papers

Use of Estonian Biobank data and participant recall to improve Wilson's disease management.

Nurm M et al.

European Journal of Human Genetics : Ejhg, 2025

Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.

Kulkarni AV et al.

Gastro Hep Advances, 2025

40761701 (PubMed )
Supplement: mmc1.docx

Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.

Li X et al.

Human Mutation, 2019

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

Mukherjee S et al.

Parkinsonism & Related Disorders, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."