Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.E412*
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ATP7B

NM_000053.4:p.E412*

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

KMD: Korean Mutation Database for genes related to diseases.

Park MH et al.

Human Mutation, 2012

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."