Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G1268R
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ATP7B

NM_000053.4:p.G1268R

Associated Papers

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

Li M et al.

Bmc Gastroenterology, 2021

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.

Dong Y et al.

Theranostics, 2016

Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease.

Wu ZY et al.

Journal of Molecular Medicine (berlin, Germany), 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."