Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.E429Splc
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ATP7B

NM_000053.4:p.E429Splc

Associated Papers

Dysfunction of ATP7B Splicing Variant Caused by Enhanced Interaction With COMMD1 in Wilson Disease.

Zhou D et al.

Cellular and Molecular Gastroenterology and Hepatology, 2025

Obesity as a Confounding Factor in the Diagnosis of Wilson's Disease: Case Report of Two Siblings with the Same Genotype but Different Clinical Courses.

Bracciamà E et al.

Current Issues in Molecular Biology, 2024

Role of RNA Alternative Splicing in T Cell Function and Disease.

Banerjee S et al.

Genes, 2023

37895245 (PubMed )
Supplement: genes-14-01896-s001.zip › Supplementary_Table.xlsx › Supplementary_Table

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

Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.

Lepori MB et al.

Genetic Testing, 2007

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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."