Varaico: Literature-Extracted Genetic Variants

Gene:KDM5B
Variant:p.A388P
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KDM5B

NM_006618.5:p.A388P

Associated Papers

Cofactors-loaded quaternary structure of lysine-specific demethylase 5C (KDM5C) protein: Computational model.

Peng Y et al.

Proteins, 2016

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.

Tzschach A et al.

Human Mutation, 2006

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."