Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.A725fs
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MBD5

NM_001378120.1:p.A725fs

Associated Papers

Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene.

González-Ortega G et al.

Journal of Alzheimer's Disease : Jad, 2021

A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?

Verhoeven W et al.

Molecular Genetics & Genomic Medicine, 2019

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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."