Associated Papers
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.
Thauvin-Robinet C et al.
European Journal of Human Genetics : Ejhg, 2025
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
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
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Chunn LM et al.
Frontiers in Genetics, 2020
Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
Torrezan GT et al.
Frontiers in Genetics, 2018
29868112 (PubMed )
Supplement: Table_1.DOCX
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Guimier A et al.
Nature Genetics, 2015
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