Varaico: Literature-Extracted Genetic Variants

Gene:MBD2
Variant:p.D402Y
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MBD2

NM_003927.5:p.D402Y

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

Cofactors-loaded quaternary structure of lysine-specific demethylase 5C (KDM5C) protein: Computational model.

Peng Y et al.

Proteins, 2016

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

Brookes E et al.

Human Molecular Genetics, 2015

Computational and experimental approaches to reveal the effects of single nucleotide polymorphisms with respect to disease diagnostics.

Kucukkal TG et al.

International Journal of Molecular Sciences, 2014

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

Rujirabanjerd S et al.

European Journal of Human Genetics : Ejhg, 2010

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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."