Varaico: Literature-Extracted Genetic Variants

Gene:MMP20
Variant:p.Q42_A43Splc
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MMP20

NM_004771.4:p.Q42_A43Splc

Associated Papers

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

Wang SK et al.

Journal of Dental Sciences, 2026

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

Bloch-Zupan A et al.

Frontiers in Physiology, 2023

37228816 (PubMed )
Supplement: Table3.xlsx › Isolated

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

32495503 (PubMed )
Supplement: MGG3-8-e1307-s001.pdf

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

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

Prasad MK et al.

Journal of Medical Genetics, 2016

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