Varaico: Literature-Extracted Genetic Variants

Gene:KDM5C
Variant:p.T713M
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KDM5C

NM_004187.5:p.T713M

Associated Papers

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

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

Carmignac V et al.

Clinical Genetics, 2020

KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.

Gonçalves TF et al.

European Journal of Medical Genetics, 2014

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