Varaico: Literature-Extracted Genetic Variants

Gene:EFTUD2
Variant:p.R220C
Back to variants list

EFTUD2

NM_004247.4:p.R220C

Associated Papers

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.

Koh HY et al.

Jama Network Open, 2023

37471090 (PubMed )
Supplement: jamanetwopen-e2324380-s001.pdf

Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.

Almubarak A et al.

Genes, 2022

Copy number signatures and mutational processes in ovarian carcinoma.

Macintyre G et al.

Nature Genetics, 2018

30104763 (PubMed )
Supplement: NIHMS78219-supplement-3.xlsx › mutated_cases

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.

Benaglio P et al.

Molecular Vision, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."