Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.T1050fs
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ATP7B

NM_000053.4:p.T1050fs

Associated Papers

Secondary findings in a large Pakistani cohort tested with whole genome sequencing.

Skrahin A et al.

Life Science Alliance, 2023

36635046 (PubMed )
Supplement: LSA-2022-01673_TableS2.xlsx › Sheet1

Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.

Kumari N et al.

Human Mutation, 2018

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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."