Varaico: Literature-Extracted Genetic Variants

Gene:OSGEP
Variant:p.R50*
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OSGEP

NM_017807.4:p.R50*

Associated Papers

Prenatally and postnatally sequential genetic etiology detection in corpus callosum abnormalities.

Xue H et al.

Scientific Reports, 2025

The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.

Claus LR et al.

Kidney International Reports, 2024

39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort
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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."