Varaico: Literature-Extracted Genetic Variants

Gene:OBSL1
Variant:p.G283delFs
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OBSL1

NM_015311.3:p.G283delFs

Associated Papers

Genetic Insights into Familial Hypospadias Identifying Rare Variants and Their Potential Role in Urethral Development.

Al-Shafai KN et al.

Genes, 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

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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."