Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.Q649Splc
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ATP7B

NM_000053.4:p.Q649Splc

Associated Papers

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Singh N et al.

Plos One, 2019

31059521 (PubMed )
Supplement: pone.0215779.s001.pdf

[Mutation analysis of 35 Wilson's disease pedigrees].

Zong Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016

Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration.

Zong YN et al.

Genetics and Molecular Research : Gmr, 2015

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