Varaico: Literature-Extracted Genetic Variants

Gene:MED12L
Variant:p.G44D
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MED12L

NM_001393769.1:p.G44D

Associated Papers

Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.

Stewart R et al.

American Journal of Medical Genetics. Part A, 2026

Prevalence and clinical significance of mediator complex subunit 12 mutations in 362 Han Chinese samples with uterine leiomyoma.

Wu J et al.

Oncology Letters, 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."