Varaico: Literature-Extracted Genetic Variants

Gene:MBD2
Variant:p.M1T
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MBD2

NM_003927.5:p.M1T

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

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

Brookes E et al.

Human Molecular Genetics, 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."