Varaico: Literature-Extracted Genetic Variants

Gene:DSPP
Variant:p.Q45_D46Splc
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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

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

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

Mouse Dspp frameshift model of human dentinogenesis imperfecta.

Liang T et al.

Scientific Reports, 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_S4-5_Final_021921.xlsx › Table_S3.5

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

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

Genetic studies of craniofacial anomalies: clinical implications and applications.

Hart TC et al.

Orthodontics & Craniofacial Research, 2009

A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II.

Wang H et al.

Mutation Research, 2009

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

Lee SK et al.

Journal of Endodontics, 2008

Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.

Barron MJ et al.

Orphanet Journal of Rare Diseases, 2008

Hereditary dentin defects.

Kim JW et al.

Journal of Dental Research, 2007

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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."