Associated Papers
Loss of human ICOSL results in combined immunodeficiency.
Roussel L et al.
The Journal of Experimental Medicine, 2018
30498080 (PubMed )
Supplement: JEM_20180668_TableS1.xlsx › SR5064319_min_10_reads_annotate
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S15
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Villa F et al.
Immunity & Ageing : I & A, 2014
25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
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