Varaico: Literature-Extracted Genetic Variants

Gene:KDM5C
Variant:p.R80K
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KDM5C

NM_004187.5:p.R80K

Associated Papers

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

Jensen LR et al.

American Journal of Human Genetics, 2005

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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."