Varaico: Literature-Extracted Genetic Variants

Gene:KDM5C
Variant:p.H514Y
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KDM5C

NM_004187.5:p.H514Y

Associated Papers

Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.

Abidi F et al.

Human Genetics, 2009

Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.

Abidi F et al.

Human Genetics, 2009

Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.

Abidi F et al.

Human Genetics, 2009

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

Abidi FE et al.

Journal of Medical Genetics, 2008

The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.

Tahiliani M et al.

Nature, 2007

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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."