Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.D1279Y
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ATP7B

NM_000053.4:p.D1279Y

Associated Papers

Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.

Cheng N et al.

Clinical Genetics, 2017

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

A novel mutation in ATP7B gene associated with severe neurological and psychiatric symptoms.

Mihaylova V et al.

European Neurology, 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."