Varaico: Literature-Extracted Genetic Variants

Gene:OBSL1
Variant:p.L316_R322delFs
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OBSL1

NM_015311.3:p.L316_R322delFs

Associated Papers

The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings.

Lee IK et al.

Yonsei Medical Journal, 2020

OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.

Huber C et al.

Human Mutation, 2010

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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."