Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.E117V
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ACTB

NM_001101.5:p.E117V

Associated Papers

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

35599849 (PubMed )
Supplement: mmc1.xlsx › Sheet1

CITED2 Mutations in Conserved Regions Contribute to Conotruncal Heart Defects in Chinese Children.

Li B et al.

Dna and Cell Biology, 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."