Varaico: Literature-Extracted Genetic Variants

Gene:MED23
Variant:p.H1219R
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MED23

NM_015979.4:p.H1219R

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

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.

Gall T et al.

Frontiers in Medicine, 2017

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

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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."