Varaico: Literature-Extracted Genetic Variants

Gene:OBSL1
Variant:p.L287V
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OBSL1

NM_015311.3:p.L287V

Associated Papers

Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China.

Liu W et al.

Orphanet Journal of Rare Diseases, 2023

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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."