Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.L1249L
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ATP7B

NM_001330579.2:p.L1249L

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

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
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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."