Varaico: Literature-Extracted Genetic Variants

Gene:MMP21
Variant:p.G166*
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MMP21

NM_147191.1:p.G166*

Associated Papers

Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 -Related Disorder and Further Refine INSYN2A Involvement in the Postnatal Cognitive Phenotype.

Su J et al.

Molecular Genetics & Genomic Medicine, 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

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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."