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

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

A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II.

Zhang J et al.

Plos One, 2011

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