Varaico: Literature-Extracted Genetic Variants

Gene:MED23
Variant:p.R1336*
Back to variants list

MED23

NM_015979.4:p.R1336*

Associated Papers

Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly.

Salzano E et al.

Frontiers in Neurology, 2023

Novel mutation in the MED23 gene for intellectual disability: A case report and literature review.

Hashemi-Gorji F et al.

Clinical Case Reports, 2019

High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.

Cho SY et al.

Experimental & Molecular Medicine, 2017

28408749 (PubMed )
Supplement: emm20179x1.xlsx › Table_S3

MED23-associated refractory epilepsy successfully treated with the ketogenic diet.

Lionel AC et al.

American Journal of Medical Genetics. Part A, 2016

MED23-associated intellectual disability in a non-consanguineous family.

Trehan A et al.

American Journal of Medical Genetics. Part A, 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."