Varaico: Literature-Extracted Genetic Variants

Gene:EEF1A1
Variant:p.P209L
Back to variants list

EEF1A1

NM_001402.6:p.P209L

Associated Papers

Protein Subdomain Enrichment of NUP155 Variants Identify a Novel Predicted Pathogenic Hotspot.

Leonard RJ et al.

Frontiers in Cardiovascular Medicine, 2020

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.

Neeve VC et al.

Mitochondrion, 2013

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."