Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.M1212V
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ATP7B

NM_000053.4:p.M1212V

Associated Papers

Use of Estonian Biobank data and participant recall to improve Wilson's disease management.

Nurm M et al.

European Journal of Human Genetics : Ejhg, 2025

39674827 (PubMed )
Supplement: 41431_2024_1767_MOESM2_ESM.pdf

Phenotypic and genetic characterization of children with Wilson Disease from Northeast China.

Zhang T et al.

Bmc Pediatrics, 2024

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