Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G998G
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ATP7B

NM_000053.4:p.G998G

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

Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.

Öfverholm I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38573684 (PubMed )
Supplement: ccr-24-0384_supplementary_data_6_suppts6.xlsx › Sheet1

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

Zhou X et al.

Frontiers in Genetics, 2020

ATP7B Gene Mutations in Croatian Patients with Wilson Disease.

Ljubić H et al.

Genetic Testing and Molecular Biomarkers, 2016

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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."