Varaico: Literature-Extracted Genetic Variants

Gene:SOST
Variant:p.R188W
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SOST

NM_025237.3:p.R188W

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

Identification of Targetable Lesions in Anaplastic Thyroid Cancer by Genome Profiling.

Ravi N et al.

Cancers, 2019

30909364 (PubMed )
Supplement: cancers-11-00402-s001.zip › cancers-454918-suppl-final › cancers-454918-Table-S2.xlsx › Sheet1
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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."