Varaico: Literature-Extracted Genetic Variants

Gene:MMP21
Variant:p.K342delFs
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MMP21

NM_147191.1:p.K342delFs

Associated Papers

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

A human laterality disorder caused by a homozygous deleterious mutation in MMP21.

Perles Z et al.

Journal of Medical Genetics, 2015

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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."