Varaico: Literature-Extracted Genetic Variants

Gene:MED23
Variant:p.A180D
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MED23

NM_004830.4:p.A180D

Associated Papers

MED23 pathogenic variant: genomic-phenotypic analysis.

Bamaga A et al.

Journal of Medicine and Life, 2024

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

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.

Demos M et al.

Frontiers in Neurology, 2019

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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."