Varaico: Literature-Extracted Genetic Variants

Gene:MED25
Variant:p.R132C
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MED25

NM_030973.4:p.R132C

Associated Papers

Epilepsy due to a MED25 Homozygous Pathogenic Founder Variant.

Ng AC et al.

Journal of Child Neurology, 2025

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table2.xlsx › Supplementary_table_2._

Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.

Maini I et al.

Neurogenetics, 2021

Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.

Haynes D et al.

American Journal of Medical Genetics. Part A, 2020

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8
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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."