Varaico: Literature-Extracted Genetic Variants

Gene:ACBD5
Variant:p.H8Y
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ACBD5

NM_001042473.4:p.H8Y

Associated Papers

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

Pippucci T et al.

American Journal of Human Genetics, 2011

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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."