Varaico: Literature-Extracted Genetic Variants

Gene:KDM5C
Variant:p.C640Y
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KDM5C

NM_004187.5:p.C640Y

Associated Papers

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.

Leonardi E et al.

European Journal of Human Genetics : Ejhg, 2023

Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome.

Hatch HAM et al.

The Febs Journal, 2022

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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."