Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.S38Splc
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MBD5

NM_001378120.1:p.S38Splc

Associated Papers

A Novel Intronic Mutation in MBD5 Results in Autosomal Dominant Intellectual Disability Type 1 due to Abnormal Splicing.

Jiang H et al.

Molecular Genetics & Genomic Medicine, 2025

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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."