Varaico: Literature-Extracted Genetic Variants

Gene:DSPP
Variant:p.P17_V18Splc
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DSPP

NM_014208.3:p.P17_V18Splc

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

New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.

Fernández-Suárez E et al.

Npj Genomic Medicine, 2025

40603303 (PubMed )
Supplement: 41525_2025_500_MOESM2_ESM.xlsx › Supplementary_Data_1

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

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

Mouse Dspp frameshift model of human dentinogenesis imperfecta.

Liang T et al.

Scientific Reports, 2021

Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families.

Taleb K et al.

Molecular Genetics & Genomic Medicine, 2018

Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia.

Li F et al.

Oral Diseases, 2017

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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."