Varaico: Literature-Extracted Genetic Variants

Gene:OBSL1
Variant:p.E454fs
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OBSL1

NM_015311.3:p.E454fs

Associated Papers

Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.

Zabihi R et al.

Clinical Genetics, 2026

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.

Andrews A et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.

Shapiro L et al.

European Journal of Endocrinology, 2017

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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."