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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HDAC8

Variant:p.R313Q

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HDAC8

NM_018486.3:p.R313Q

hg38:chrX:72462071 C>T

Associated Papers

Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype.

Jezela-Stanek A et al.

Clinical Dysmorphology, 2019

30921088 (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."