Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.P912_L916delFs
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ATP7B

NM_000053.4:p.P912_L916delFs

Associated Papers

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

The Pragmatic Treatment of Wilson's Disease.

Aggarwal A et al.

Movement Disorders Clinical Practice, 2014

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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