Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.A1168S
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ATP7B

NM_000053.4:p.A1168S

Associated Papers

Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.

Calvo JS et al.

Human Mutation, 2025

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.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

Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.

Yoo HW

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."