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

Splicing mutation in DSPP causes dentinogenesis imperfecta and amelogenesis imperfecta.

Zhang Z et al.

Bmc Oral Health, 2026

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

A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.

Yuan M et al.

Oral Diseases, 2023

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

Haploinsufficiency of Dspp Gene Causes Dentin Dysplasia Type II in Mice.

Shi C et al.

Frontiers in Physiology, 2020

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

Bloch-Zupan A et al.

Frontiers in Physiology, 2016

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R et al.

Advances in Bioinformatics, 2016

27313609 (PubMed )
Supplement: 5614058.f1.pdf

Efficient trafficking of acidic proteins out of the endoplasmic reticulum involves a conserved amino terminal IleProVal (IPV)-like tripeptide motif.

Nam AS et al.

Connective Tissue Research, 2014

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

A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia.

Lee SK et al.

Journal of Endodontics, 2008

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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."