Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.K213_V214del2
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ATP7B

NM_000053.4:p.K213_V214del2

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

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
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