Varaico: Literature-Extracted Genetic Variants

Gene:DSPP
Variant:p.P19L
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DSPP

NM_014208.3:p.P19L

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

A Novel DSPP Mutation in Dentinogenesis Imperfecta Shields Type II: Clinical, Genetic and Stem Cell Perspectives.

Gao Q et al.

International Dental Journal, 2025

Functions of secretory calcium-binding phosphoproteins in dental mineralization.

Chun YP et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

A family study of dentinogenesis imperfecta shields type II caused by a novel DSPP mutation and investigations on the isolated stem cells from human exfoliated deciduous teeth.

Gao Q et al.

Bmc Oral Health, 2025

Novel dentin sialophosphoprotein gene frameshift mutations affect dentin mineralization.

Zhang Z et al.

Archives of Oral Biology, 2023

Dentin defects caused by a Dspp-1 frameshift mutation are associated with the activation of autophagy.

Liang T et al.

Scientific Reports, 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

Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins.

Kaur S et al.

Journal of Cell Communication and Signaling, 2021

Enamel Defects Associated With Dentin Sialophosphoprotein Mutation in Mice.

Liang T et al.

Frontiers in Physiology, 2021

Mutant Dentin Sialophosphoprotein Causes Dentinogenesis Imperfecta.

Liang T et al.

Journal of Dental Research, 2019

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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."