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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTG1

Variant:p.L293L

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ACTG1

NM_001614.5:p.L293L

hg38:chr17:81511034 G>A

Associated Papers

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.

García-García G et al.

Genes, 2020

33297549 (PubMed )

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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."