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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OSGEP

Variant:p.K188_K189del2

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OSGEP

NM_017807.4:p.K188_K189del2

hg38:chr14:20448801 GCTTCTT>G

Associated Papers

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )

Supplement: jamanetwopen-e251807-s002.xlsx › eTable4

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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."