Associated Papers
Expanding the Molecular Spectrum of MMP21 Missense Variants: Clinical Insights and Literature Review.
Pasquetti D et al.
Genes, 2025
De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children.
Qin XJ et al.
Human Genomics, 2022
36123719 (PubMed )
Supplement: 40246_2022_409_MOESM4_ESM.xlsx › MMP21_variants
Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.
Aitkulova A et al.
Biomedical Reports, 2022
35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M et al.
Cancers, 2020
32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2
A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient.
Yuan ZZ et al.
Frontiers in Cardiovascular Medicine, 2020
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Guimier A et al.
Nature Genetics, 2015
26437028 (PubMed )
Supplement: NIHMS707556-supplement-4.xlsx › Feuil1
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