Varaico: Literature-Extracted Genetic Variants

Gene:ACTN1
Variant:p.D20N
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ACTN1

NM_001130004.2:p.D20N

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

ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia.

Boutroux H et al.

Journal of Pediatric Hematology/oncology, 2017

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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."