Associated Papers
Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.
Harvey DC et al.
Frontiers in Cardiovascular Medicine, 2023
37840956 (PubMed )
Supplement: Table1.xlsx › Supp_Table_1
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Kosmicki JA et al.
Nature Genetics, 2017
28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease
Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.
Ozono K et al.
The Journal of Clinical Endocrinology and Metabolism, 1996
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