Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.L1255I
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ATP7B

NM_000053.4:p.L1255I

Associated Papers

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.

Usta J et al.

Plos One, 2014

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."