Varaico: Literature-Extracted Genetic Variants

Gene:MMP20
Variant:p.W34*
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MMP20

NM_004771.4:p.W34*

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

Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients.

Liang Y et al.

Plos Genetics, 2022

36095024 (PubMed )
Supplement: pgen.1010373.s019.xlsx › S4_Table

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

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

Target gene analyses of 39 amelogenesis imperfecta kindreds.

Chan HC et al.

European Journal of Oral Sciences, 2011

MMP20 hemopexin domain mutation in amelogenesis imperfecta.

Lee SK et al.

Journal of Dental Research, 2010

Premature stop codon in MMP20 causing amelogenesis imperfecta.

Papagerakis P et al.

Journal of Dental Research, 2008

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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."