Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.K175delFs
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ATP7B

NM_000053.4:p.K175delFs

Associated Papers

Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.

Witt D et al.

Breast (edinburgh, Scotland), 2025

40403485 (PubMed )
Supplement: mmc2.xlsx › Actionable_findings

The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.

Kong XF et al.

Scientific Reports, 2023

38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM3_ESM.xlsx › Liver_CLD_cohort

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
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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."