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

The Role of DSPP in Dentine Formation and Hereditary Dentine Defects.

Jia J et al.

The Chinese Journal of Dental Research, 2024

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

[Identification of a novel mutation of DSPP gene in a Chinese family affected with dentinogenesis imperfecta shields type II].

Liu Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016

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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."