Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.C431R
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ATP7B

NM_000053.4:p.C431R

Associated Papers

Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya.

Mungai LNW et al.

Orphanet Journal of Rare Diseases, 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
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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."