Varaico: Literature-Extracted Genetic Variants

Gene:MMP20
Variant:p.T130I
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MMP20

NM_004771.4:p.T130I

Associated Papers

Novel MMP20 (matrix metalloproteinase 20) mutations causing hypoplastic-hypomaturation amelogenesis imperfecta.

Wang SK et al.

Journal of Dental Sciences, 2026

Integrating Imaging and Genomics in Amelogenesis Imperfecta: A Novel Diagnostic Approach.

Leban T et al.

Genes, 2025

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Bloch-Zupan A et al.

Frontiers in Physiology, 2023

Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.

Nikolopoulos G et al.

Human Mutation, 2021

Dental malformations associated with biallelic MMP20 mutations.

Wang SK et al.

Molecular Genetics & Genomic Medicine, 2020

Alteration of Exon Definition Causes Amelogenesis Imperfecta.

Kim YJ et al.

Journal of Dental Research, 2020

Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.

Chang X et al.

Nature Communications, 2017

28924153 (PubMed )
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Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta.

Kim YJ et al.

Frontiers in Physiology, 2017

Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta.

Gasse B et al.

Frontiers in Physiology, 2017

Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Smith CEL et al.

Frontiers in Physiology, 2017

Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature.

Zhang C et al.

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2015

Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.

Gasse B et al.

Journal of Dental Research, 2013

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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."