Varaico: Literature-Extracted Genetic Variants

Gene:MMP20
Variant:p.H226Q
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MMP20

NM_004771.4:p.H226Q

Associated Papers

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

Wang SK et al.

Journal of Dental Sciences, 2026

Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta.

Sharmin N et al.

Plos One, 2025

Dental malformations associated with biallelic MMP20 mutations.

Wang SK et al.

Molecular Genetics & Genomic Medicine, 2020

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

Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.

Gasse B et al.

Journal of Dental Research, 2013

Target gene analyses of 39 amelogenesis imperfecta kindreds.

Chan HC et al.

European Journal of Oral Sciences, 2011

Amelogenesis imperfecta: genotype-phenotype studies in 71 families.

Wright JT et al.

Cells, Tissues, Organs, 2011

MMP20 hemopexin domain mutation in amelogenesis imperfecta.

Lee SK et al.

Journal of Dental Research, 2010

MMP20 active-site mutation in hypomaturation amelogenesis imperfecta.

Ozdemir D et al.

Journal of Dental Research, 2005

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