Varaico: Literature-Extracted Genetic Variants

Gene:OSR2
Variant:p.R161*
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OSR2

NM_001142462.3:p.R161*

Associated Papers

Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestations.

Deng M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."