Varaico: Literature-Extracted Genetic Variants

Gene:SOST
Variant:p.V21L
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SOST

NM_025237.3:p.V21L

Associated Papers

Early Diagnosis and Follow-Up of a Novel Homozygous Mutation in SOST Gene in a Child with Recurrent Facial Palsy: A Case Report and Review of the Literature.

Acquaviva F et al.

International Journal of Molecular Sciences, 2025

Therapeutic targeting of Wnt antagonists by small molecules for treatment of osteoporosis.

Abhishek Shah A et al.

Biochemical Pharmacology, 2024

Pathogenic signal peptide variants in the human genome.

Gutierrez Guarnizo SA et al.

Nar Genomics and Bioinformatics, 2023

37859801 (PubMed )
Supplement: lqad093_supplemental_files.zip › SupplementaryFileS4.xlsx › C-region

Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts.

Martínez-Gil N et al.

International Journal of Molecular Sciences, 2021

Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.

Whyte MP et al.

Bone, 2018

Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia.

Chan WCW et al.

Human Molecular Genetics, 2017

Sclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous family.

He WT et al.

Clinical Genetics, 2016

Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother.

Kaissi AA et al.

Clinics (sao Paulo, Brazil), 2012

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

Kim SJ et al.

Human Genetics, 2011

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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."