Varaico: Literature-Extracted Genetic Variants

Gene:OBSL1
Variant:p.R436delFs
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OBSL1

NM_015311.3:p.R436delFs

Associated Papers

3-M syndrome: evolution of the phenotype over time.

Bacchi I et al.

Italian Journal of Pediatrics, 2025

41437277 (PubMed )
Supplement: 13052_2025_2172_MOESM1_ESM.xlsx › S2_OBSL1

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

3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature.

Al-Dosari MS et al.

The Journal of Pediatrics, 2012

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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."