Varaico: Literature-Extracted Genetic Variants

Gene:DSPP
Variant:p.Q45_D46Splc
Back to variants list

DSPP

NM_014208.3:p.Q45_D46Splc

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

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

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

A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family.

Bai H et al.

Bmc Medical Genetics, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."