Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.V35A
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ACTB

NM_001101.5:p.V35A

Associated Papers

Further delineation of putative ACTB loss-of-function variants: A 4-patient series.

Baumann M et al.

Human Mutation, 2020

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Latham SL et al.

Nature Communications, 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."