Varaico: Literature-Extracted Genetic Variants

Gene:ACTN1
Variant:p.M1_D2delFs
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ACTN1

NM_001130004.2:p.M1_D2delFs

Associated Papers

"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).

Lassandro G et al.

Frontiers in Pediatrics, 2022

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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."