Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.K328_I329Splc
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ACTB

NM_001101.5:p.K328_I329Splc

Associated Papers

A validated heart-specific model for splice-disrupting variants in childhood heart disease.

Lesurf R et al.

Genome Medicine, 2024

39402625 (PubMed )
Supplement: 13073_2024_1383_MOESM7_ESM.xlsx › Table_S7

Spectrum of mutations in alpha-mannosidosis.

Berg T et al.

American Journal of Human Genetics, 1999

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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."