Varaico: Literature-Extracted Genetic Variants

Gene:DSPP
Variant:p.Q45_D46Splc
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DSPP

NM_014208.3:p.Q45_D46Splc

Associated Papers

Beyond the diagnosis: Unraveling DSPP genotype-phenotype correlations in dentin dysplasia and dentinogenesis imperfecta.

Boonyakanog A et al.

The Japanese Dental Science Review, 2026

A Novel Variant in Dentin Sialophosphoprotein (DSPP) Gene Causes Dentinogenesis Imperfecta Type III: Case Report.

Wang Y et al.

Molecular Genetics & Genomic Medicine, 2025

The genetics of non-syndromic dentinogenesis imperfecta: a systematic review.

Gilani M et al.

European Archives of Paediatric Dentistry : Official Journal of the European Academy of Paediatric Dentistry, 2025

The Role of DSPP in Dentine Formation and Hereditary Dentine Defects.

Jia J et al.

The Chinese Journal of Dental Research, 2024

Novel dentin sialophosphoprotein gene frameshift mutations affect dentin mineralization.

Zhang Z et al.

Archives of Oral Biology, 2023

Translated Mutant DSPP mRNA Expression Level Impacts the Severity of Dentin Defects.

Kim YJ et al.

Journal of Personalized Medicine, 2022

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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."