Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.L1133L
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ATP7B

NM_000053.4:p.L1133L

Associated Papers

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

Shah AB et al.

American Journal of Human Genetics, 1997

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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."