Varaico: Literature-Extracted Genetic Variants

Gene:DSPP
Variant:p.V18G
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DSPP

NM_014208.3:p.V18G

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

A family study of dentinogenesis imperfecta shields type II caused by a novel DSPP mutation and investigations on the isolated stem cells from human exfoliated deciduous teeth.

Gao Q et al.

Bmc Oral Health, 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

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

Du Q et al.

Clinical Oral Investigations, 2023

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

Simmer JP et al.

Genes, 2022

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

Functional splicing assay of DSPP mutations in hereditary dentin defects.

Lee KE et al.

Oral Diseases, 2011

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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."