Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.S338_I341del0
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ACTB

NM_001101.5:p.S338_I341del0

Associated Papers

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Di Donato N et al.

American Journal of Human Genetics, 2026

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."