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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ESCO1

Variant:p.V179L

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ESCO1

NM_052911.3:p.V179L

hg38:chr18:21574309 C>A

Associated Papers

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

Kuzniacka A et al.

Journal of Applied Genetics, 2013

23254390 (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."