Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.T1076I
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ATP7B

NM_000053.4:p.T1076I

Associated Papers

Pathogenicity analysis of ATP7B in pediatric patients with Wilson's disease and functional verification of alternative splice variants.

Wang Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

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

A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the ATP7B Gene.

Zhou X et al.

Frontiers in Genetics, 2020

33719328 (PubMed )
Supplement: Table_1.XLSX › Sheet1

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

Barada K et al.

World Journal of Gastroenterology, 2017

Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.

El-Mougy FA et al.

Arab Journal of Gastroenterology : the Official Publication of the Pan-arab Association of Gastroenterology, 0

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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."