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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ESCO2

Variant:p.T254insFs

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ESCO2

NM_001017420.3:p.T254insFs

hg38:chr8:27777069 C>CA

Associated Papers

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Gordillo M et al.

Human Molecular Genetics, 2008

18411254 (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."