Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.S71_C72delFs
Back to variants list

ATP7B

NM_000053.4:p.S71_C72delFs

Associated Papers

Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.

Djebrani-Oussedik N et al.

Jhep Reports : Innovation in Hepatology, 2025

40980162 (PubMed )
Supplement: mmc1.pdf

Wilson's disease in Sardinian population: The experience of a pediatric referral center.

Loudianos G et al.

Journal of Pediatric Gastroenterology and Nutrition, 2024

Association of Variants in the CP, ATOX1 and COMMD1 Genes with Wilson Disease Symptoms in Latvia.

Zarina A et al.

Balkan Journal of Medical Genetics : Bjmg, 2019

31942415 (PubMed )
Supplement: bjmg-22-037_sm.pdf

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 and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.

Liu G et al.

Bmc Medical Genetics, 2018

29649982 (PubMed )
Supplement: 12881_2018_567_MOESM2_ESM.docx

Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease.

Zarina A et al.

Molecular Genetics & Genomic Medicine, 2017

28717664 (PubMed )
Supplement: MGG3-5-405-s001.xlsx › Sheet1

Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.

Gojová L et al.

Clinical Genetics, 2008

Diagnosis of Wilson's disease: a comprehensive review.

Mak CM et al.

Critical Reviews in Clinical Laboratory Sciences, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."