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
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.
Abbasi S et al.
Journal of Cardiovascular and Thoracic Research, 2021
Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.
Labriola MK et al.
Journal for Immunotherapy of Cancer, 2020
32221016 (PubMed )
Supplement: jitc-2019-000319supp001.xlsx › Supp_Table_1
Identification of functional mutations in GATA4 in patients with congenital heart disease.
Wang E et al.
Plos One, 2013
23626780 (PubMed )
Supplement: pone.0062138.s004.xlsx › information_of_all_mutations
Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome.
Porto MP et al.
Genetics and Molecular Biology, 2010
Select a paper to view details