Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.P1014L
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ATP7B

NM_000053.4:p.P1014L

Associated Papers

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.

Li M et al.

Bmc Gastroenterology, 2021

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

Zhao S et al.

European Journal of Human Genetics : Ejhg, 2019

30275481 (PubMed )
Supplement: 41431_2018_253_MOESM10_ESM.xlsx › Sheet1

Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study.

Abuduxikuer K et al.

Plos One, 2014

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