Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.L1304F
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ATP7B

NM_000053.4:p.L1304F

Associated Papers

Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease.

Stalke A et al.

Clinical Genetics, 2023

Clinical presentation and mutations in Danish patients with Wilson disease.

Møller LB et al.

European Journal of Human Genetics : Ejhg, 2011

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