Varaico: Literature-Extracted Genetic Variants

Gene:OSGEP
Variant:p.S203L
Back to variants list

OSGEP

NM_017807.4:p.S203L

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

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

Xu S et al.

Frontiers in Pediatrics, 2022

35783322 (PubMed )
Supplement: Data_Sheet_1.PDF

Increase in diagnostic yield achieved for 174 whole-exome sequencing cases reanalyzed 1-2 years after initial analysis.

Liu Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization.

Teng H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

Multi-omics profiling of primary small cell carcinoma of the esophagus reveals RB1 disruption and additional molecular subtypes.

Li R et al.

Nature Communications, 2021

34145257 (PubMed )
Supplement: 41467_2021_24043_MOESM5_ESM.xlsx › Sheet1
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."