Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G710R
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ATP7B

NM_000053.4:p.G710R

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

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

Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.

Zhu HW et al.

World Journal of Pediatrics : Wjp, 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

In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.

Squitti R et al.

Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2014

A comparison of the mutation spectra of Menkes disease and Wilson disease.

Hsi G et al.

Human Genetics, 2004

Nuances in ATP7B Genetic Testing and Interpretation in India.

Mishra AK et al.

Journal of Clinical and Experimental Hepatology, 0

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