Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.I752V
Back to variants list

MBD5

NM_001378120.1:p.I752V

Associated Papers

Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.

Martins Custodio H et al.

Brain : a Journal of Neurology, 2023

37006128 (PubMed )
Supplement: awad111_supplementary_data.zip › brain-2022-01408-File013.xlsx › Sheet_1

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Bonnet C et al.

European Journal of Human Genetics : Ejhg, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."