Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.I1021V
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ATP7B

NM_000053.4:p.I1021V

Associated Papers

Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.

Collins CJ et al.

Gastroenterology, 2021

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

Epidemiology and introduction to the clinical presentation of Wilson disease.

Lo C et al.

Handbook of Clinical Neurology, 2017

A genetic study of Wilson's disease in the United Kingdom.

Coffey AJ et al.

Brain : a Journal of Neurology, 2013

Familial screening in Wilson's disease: think at the previous generation!

Brunet AS et al.

Journal of Hepatology, 2012

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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."