Varaico: Literature-Extracted Genetic Variants

Gene:OSGEP
Variant:p.H48R
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OSGEP

NM_017807.4:p.H48R

Associated Papers

Maximizing Diagnostic Yield in Intellectual Disability Through Exome Sequencing: Genotype-Phenotype Insights in a Vietnamese Cohort.

Hoang TL et al.

Diagnostics (basel, Switzerland), 2025

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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."