Varaico: Literature-Extracted Genetic Variants

Gene:ACTN3
Variant:p.A105T
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ACTN3

NM_001258371.3:p.A105T

Associated Papers

ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia.

Faleschini M et al.

British Journal of Haematology, 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."