Varaico: Literature-Extracted Genetic Variants

Gene:SOST
Variant:p.F29_K30insFs
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SOST

NM_025237.3:p.F29_K30insFs

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

40943101 (PubMed )
Supplement: ijms-26-08175-s001.zip › Supplementary_Table_S2_SOST_Mutation_ClinVar.xlsx › Foglio1

A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin.

Ekhzaimy AA et al.

Medicina (kaunas, Lithuania), 2022

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

Whyte MP et al.

Bone, 2018

A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis.

Fayez A et al.

Biomed Research International, 2015

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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."