Varaico: Literature-Extracted Genetic Variants

Gene:MMP20
Variant:p.I319fs
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MMP20

NM_004771.4:p.I319fs

Associated Papers

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

Nikolopoulos G et al.

Human Mutation, 2021

Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta.

Kim YJ 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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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."