Varaico: Literature-Extracted Genetic Variants

Gene:OBSL1
Variant:p.G153Fs
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OBSL1

NM_015311.3:p.G153Fs

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

Novel OBSL1 Variant in a Chinese Patient with 3M Syndrome: The c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese Population

Piao Y et al.

Journal of Clinical Research in Pediatric Endocrinology, 2024

3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.

Karacan Küçükali G et al.

European Journal of Medical Genetics, 2023

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

Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation.

Demir K et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2013

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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."