Varaico: Literature-Extracted Genetic Variants

Gene:OBSL1
Variant:p.E231fs
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OBSL1

NM_015311.3:p.E231fs

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

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

[Clinical characteristics of four children with 3M syndrome and a literature review].

Xu N et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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."