Varaico: Literature-Extracted Genetic Variants

Gene:MED13
Variant:p.S1548G
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MED13

NM_005121.3:p.S1548G

Associated Papers

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.

Kouri C et al.

Ebiomedicine, 2025

40037090 (PubMed )
Supplement: mmc2.pdf

Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Xie S et al.

Cell Reports, 2020

32997991 (PubMed )
Supplement: NIHMS1633676-supplement-2.xlsx › BT224_Mutations

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
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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."