Varaico: Literature-Extracted Genetic Variants

Gene:ZNF516
Variant:p.R1118fs
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ZNF516

NM_014643.4:p.R1118fs

Associated Papers

A compound heterozygous ADAMTS13 mutation causes congenital thrombotic thrombocytopenic purpura: a case report.

Huang Y et al.

Frontiers in Medicine, 2024

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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."