Varaico: Literature-Extracted Genetic Variants

Gene:MMP20
Variant:p.N120delFs
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MMP20

NM_004771.4:p.N120delFs

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

Dental malformations associated with biallelic MMP20 mutations.

Wang SK et al.

Molecular Genetics & Genomic Medicine, 2020

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

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

Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.

Gasse B et al.

Journal of Dental Research, 2013

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