Associated Papers
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
39379762 (PubMed )
Supplement: 41588_2024_1947_MOESM4_ESM.xlsx › T8
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37808701 (PubMed )
Supplement: media-2.xlsx › T6
Germline hereditary, somatic mutations and microRNAs targeting-SNPs in congenital heart defects.
Sabina S et al.
Journal of Molecular and Cellular Cardiology, 2013
Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome.
Porto MP et al.
Genetics and Molecular Biology, 2010
Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects.
Salazar M et al.
European Journal of Medical Genetics, 0
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