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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACLY

Variant:p.R127*

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ACLY

NM_001096.3:p.R127*

hg38:chr17:41909667 G>A

Associated Papers

De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.

Vadgama N et al.

Human Genomics, 2022

36357925 (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."