Varaico: Literature-Extracted Genetic Variants

Gene:MED23
Variant:p.Y169C
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MED23

NM_004830.4:p.Y169C

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

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Riazuddin S et al.

Molecular Psychiatry, 2017

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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."