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International Journal of Experimental Pathology|June 13, 2002
Heterogeneity in the granulomatous response to mycobacterial infection in patients with defined genetic mutations in the interleukin 12-dependent interferon-gamma production pathwayDavid A Lammas, E De Heer, J D Edgar, et al.Journal of Immunology (Baltimore, Md. : 1950)|November 20, 2012
The capsular polysaccharide Vi from Salmonella typhi is a B1b antigenJennifer L Marshall, Adriana Flores-Langarica, Robert A Kingsley, et al.Human Mutation|May 24, 2022
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypesMarcello Scala, Nathalie Drouot, Suzanna C MacLennan, et al.Human Mutation|October 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathySamantha J Bryen, Lisa J Ewans, Jason Pinner, et al.Nature Genetics|September 29, 2020
Mutations disrupting neuritogenesis genes confer risk for cerebral palsySheng Chih Jin, Sara A Lewis, Somayeh Bakhtiari, et al.Pageof 16