Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.E122fs
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ATP7B

NM_000053.4:p.E122fs

Associated Papers

Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.

Choi W et al.

Cells, 2024

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

The genetics of Wilson disease.

Chang IJ et al.

Handbook of Clinical Neurology, 2017

Geographic distribution of ATP7B mutations in Wilson disease.

Gomes A et al.

Annals of Human Biology, 2016

The Pragmatic Treatment of Wilson's Disease.

Aggarwal A et al.

Movement Disorders Clinical Practice, 2014

Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.

Aggarwal A et al.

Annals of Human Genetics, 2013

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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."