Varaico: Literature-Extracted Genetic Variants

Gene:MBD5
Variant:p.M116V
Back to variants list

MBD5

NM_001378120.1:p.M116V

Associated Papers

Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings.

Khalifa M et al.

European Journal of Medical Genetics, 2015

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."