Varaico: Literature-Extracted Genetic Variants

Gene:KDM5C
Variant:p.G384D
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KDM5C

NM_004187.5:p.G384D

Associated Papers

A novel KDM5C variant corrects a previously erroneous diagnosis.

Chapin J et al.

European Journal of Medical Genetics, 2025

A genome-wide DNA methylation signature for SETD1B-related syndrome.

Krzyzewska IM et al.

Clinical Epigenetics, 2019

31685013 (PubMed )
Supplement: 13148_2019_749_MOESM5_ESM.xlsx › Sheet1
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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."