Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.A1074T
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ATP7B

NM_000053.4:p.A1074T

Associated Papers

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

Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.

Zhang S et al.

Translational Neurodegeneration, 2022

Early Diagnosis of Wilson's Disease in Children in Southern China by Using Common Parameters.

Zhou J et al.

Frontiers in Genetics, 2022

Hepatic manifestations of Wilson's disease: 12-year experience in a Swiss tertiary referral centre.

Vieira Barbosa J et al.

Swiss Medical Weekly, 2018

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