Varaico: Literature-Extracted Genetic Variants

Gene:DSPP
Variant:p.V18A
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DSPP

NM_014208.3:p.V18A

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

Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.

Srinivasan S et al.

Bmc Genomics, 2025

41436921 (PubMed )
Supplement: 12864_2025_12466_MOESM15_ESM.pdf

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

The Modified Shields Classification and 12 Families with Defined DSPP Mutations.

Simmer JP et al.

Genes, 2022

Functional splicing assay of DSPP mutations in hereditary dentin defects.

Lee KE et al.

Oral Diseases, 2011

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