Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.T61fs
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ATP7B

NM_000053.4:p.T61fs

Associated Papers

Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes.

Song D et al.

Human Molecular Genetics, 2022

35388883 (PubMed )
Supplement: supplementaryinformation-sd-yh_proof_ddac080.pdf

Generation of ZJUi003-A, an induced pluripotent stem cell line from a Wilson's disease patient carrying a c.180_181del mutation in ATP7B gene.

Wang J et al.

Stem Cell Research, 2020

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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."