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Article

An update on genetic variants of the NKX2-5.

Human mutation - 1 Jul 2020

Kolomenski Jorge E, Delea Marisol, Simonetti Leandro, Fabbro Mónica C, Espeche Lucía D, Taboas Melisa, Nadra Alejandro D, Bruque Carlos D, Dain Liliana

Abstract excerpt

NKX2-5 is a homeodomain transcription factor that plays a crucial role in heart development. It is the first gene where a single genetic variant (GV) was found to be associated with congenital heart diseases in humans. In this study, we carried out a comprehensive survey of NKX2-5 GVs to build a unified, curated, and updated compilation of all available GVs. We retrieved a total of 1,380 unique GVs. From these,...

Topics

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Amino Acid Motifs
Databases, Genetic
Homeobox Protein Nkx-2.5
Mutation
Protein Structure, Secondary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32369864
DOI: 10.1002/humu.24030

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