Article

Glypican-6 deficiency causes dose-dependent conotruncal congenital heart malformations through abnormal remodelling of the endocardial cushions

2021-06-28

Abstract excerpt

Tetralogy of Fallot (TOF) is considered to be the commonest type of cyanotic congenital heart disease (CHD). A previous GWAS showed significant association between TOF and single nucleotide polymorphisms in chromosome 13q31. Here through integration of population genomic and chromosomal interaction data we identify the heparan sulfate proteoglycan glypican-6 (GPC6) as the potentially responsible gene at the associ...

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Literature Corpus work: 9ef9571b-9db6-5238-b534-8518dc8ac6d8
DOI: 10.1101/2021.06.28.450191

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