Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G891D
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ATP7B

NM_000053.4:p.G891D

Associated Papers

Nano-Mediated Molecular Targeting in Diagnosis and Mitigation of Wilson Disease.

Chaturvedi A et al.

Molecular Neurobiology, 2024

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

Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.

Park S et al.

Human Mutation, 2007

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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."