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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 11, 2024. (Total: 234291Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Conjunctivitis and NLRP3[original query]
NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms.
The Journal of rheumatology 2016 May .
Sobolewska Bianka, Angermair Eva, Deuter Christoph, Doycheva Deshka, Kuemmerle-Deschner Jasmin, Zierhut Manfr
Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies.
Rheumatology international 2020 8 41 (1): 219-225.
Paim-Marques Luciana B, Cavalcante Amanda, Castro Catherine, Muskardin Theresa L Wampler, de Oliveira João Bosco, Niewold Timothy B, Appenzeller Simo
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