Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.P768H
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ATP7B

NM_000053.4:p.P768H

Associated Papers

WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

Vatsyayan A et al.

Plos One, 2024

38758754 (PubMed )
Supplement: pone.0303787.s016.xlsx › S4table

Development and identification of a induced pluripotent stem cells line (SMBCi013-A) derived from urine cells of a patient with Wilson's disease.

Zhao Y et al.

Stem Cell Research, 2022

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 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."