Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G1149A
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ATP7B

NM_000053.4:p.G1149A

Associated Papers

The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

Kumar M et al.

Movement Disorders Clinical Practice, 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

A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure.

Awan RU et al.

Acg Case Reports Journal, 2023

Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.

Li M et al.

Bmc Gastroenterology, 2021

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

Singh N et al.

Plos One, 2019

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.

Davies LP et al.

Genetic Testing, 2008

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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."