Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G572delFs
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ATP7B

NM_000053.4:p.G572delFs

Associated Papers

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

Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.

Aggarwal A et al.

Annals of Human Genetics, 2013

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