Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G998D
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ATP7B

NM_000053.4:p.G998D

Associated Papers

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

Abdel Ghaffar TY et al.

Bmc Pediatrics, 2011

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

Abdelghaffar TY et al.

Journal of Human Genetics, 2008

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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."