Varaico: Literature-Extracted Genetic Variants

Gene:DSPP
Variant:p.V18D
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DSPP

NM_014208.3:p.V18D

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 DSPP Mutation in Dentinogenesis Imperfecta Shields Type II: Clinical, Genetic and Stem Cell Perspectives.

Gao Q et al.

International Dental Journal, 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

Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.

Hassib NF et al.

Clinical Oral Investigations, 2024

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

Jia J et al.

The Chinese Journal of Dental Research, 2024

Identification of DSPP novel variants and phenotype analysis in dentinogenesis dysplasia Shields type II patients.

Du Q et al.

Clinical Oral Investigations, 2023

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

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2

Phenotype and molecular characterizations of a family with dentinogenesis imperfecta shields type II with a novel DSPP mutation.

Du Q et al.

Annals of Translational Medicine, 2021

Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.

Yoshioka H et al.

International Journal of Molecular Sciences, 2021

33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-1_Final_021921.xlsx › Table_S3.1

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.

Bloch-Zupan A et al.

Frontiers in Physiology, 2016

Hereditary dentine diseases resulting from mutations in DSPP gene.

Maciejewska I et al.

Journal of Dentistry, 2012

Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis.

Li D et al.

Genomics, 2012

Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families.

Wang SK et al.

European Journal of Oral Sciences, 2011

Functional splicing assay of DSPP mutations in hereditary dentin defects.

Lee KE et al.

Oral Diseases, 2011

Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation.

Lee SK et al.

Oral Diseases, 2011

De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family.

Kida M et al.

European Journal of Oral Sciences, 2009

A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II.

Lee SK et al.

Journal of Dental Research, 2009

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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."