Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.E396*
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ATP7B

NM_000053.4:p.E396*

Associated Papers

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

Kulkarni AV et al.

Gastro Hep Advances, 2025

CRISPR/Cas9-mediated correction of mutated copper transporter ATP7B.

Pöhler M et al.

Plos One, 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

Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance.

Barada K et al.

World Journal of Gastroenterology, 2017

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

Abdel Ghaffar TY et al.

Bmc Pediatrics, 2011

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

Abdelghaffar TY et al.

Journal of Human Genetics, 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."