Associated Papers
Homozygous variants in the GDF1 gene related to recurrent right isomerism and complex CHD in two Indian families.
Krishna MR et al.
Cardiology in the Young, 2022
An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.
Li YJ et al.
Expert Review of Molecular Diagnostics, 2017
28274167 (PubMed )
Supplement: supplement_1.doc
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
Karkera JD et al.
American Journal of Human Genetics, 2007
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