Varaico: Literature-Extracted Genetic Variants

Gene:OBSL1
Variant:p.C512Splc
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OBSL1

NM_015311.3:p.C512Splc

Associated Papers

An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families.

Elsayed S et al.

American Journal of Medical Genetics. Part A, 2025

Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.

Koprulu M et al.

The Yale Journal of Biology and Medicine, 2023

37780995 (PubMed )
Supplement: yjbm_96_3_367_appendixA.pdf

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

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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."