Varaico: Literature-Extracted Genetic Variants

Gene:KDM5C
Variant:p.R108W
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KDM5C

NM_004187.5:p.R108W

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

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

Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease.

Peng Y et al.

International Journal of Molecular Sciences, 2015

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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."