Varaico: Literature-Extracted Genetic Variants

Gene:OBSL1
Variant:p.W1114*
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OBSL1

NM_015311.3:p.W1114*

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

3M syndrome patient with a novel mutation: A case report.

Luo MR et al.

World Journal of Clinical Cases, 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

Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.

Zu B et al.

Computational and Structural Biotechnology Journal, 2021

34194672 (PubMed )
Supplement: mmc1.xlsx › S3

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

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Ji J et al.

Cold Spring Harbor Molecular Case Studies, 2019

30755392 (PubMed )
Supplement: supp_mcs.a003756_Supplemental_Table_1.xlsx › S2._106_Clinical_cases_
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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."