Varaico: Literature-Extracted Genetic Variants

Gene:OSGEP
Variant:p.K78E
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OSGEP

NM_017807.4:p.K78E

Associated Papers

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
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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."