Varaico: Literature-Extracted Genetic Variants

Gene:OSGEP
Variant:p.R280C
Back to variants list

OSGEP

NM_017807.4:p.R280C

Associated Papers

Galloway-mowat syndrome 3 (GAMOS3): a novel disease-causing variant in OSGEP gene and expansion of the clinical spectrum.

Yari A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2G.Vars_in_all_genes_Family

Molecular basis of A. thaliana KEOPS complex in biosynthesizing tRNA t6A.

Zheng X et al.

Nucleic Acids Research, 2024

Galloway-Mowat Syndrome Type 3 Caused by OSGEP Gene Variants: A Case Report and Literature Review.

Xu S et al.

Frontiers in Pediatrics, 2022

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Braun DA et al.

Nature Genetics, 2017

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."