http://rdf.disgenet.org/nanopublications.trig#NP762085.RAD2g2lbfQyw_U3BKEuAERVyAl9q5Yo-IF2PetF7-tbpE
type: Nanopublication
created: 2014-10-02T12:39:41+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetrdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v2.1.0.0

http://rdf.disgenet.org/nanopublications.trig#NP762085.RAD2g2lbfQyw_U3BKEuAERVyAl9q5Yo-IF2PetF7-tbpE130_assertion
type: Assertion
description: [In RAGD with residual V(D)J activity (>1% recombination activity of wild type), several clinical and immunological subtypes have been described: RAGD with skin inflammation and alphabeta T-cell expansion (classical Omenn syndrome), RAGD with skin inflammation and without T-cell expansion (incomplete Omenn syndrome), RAGD with gammadelta T-cell expansion and RAGD with granulomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20172764
was generated by: ECO_0000203

befree-20140225
imported on: 2014-02-25

DisGeNET evidence - LITERATURE
type: ECO_0000212
comment: Gene-disease associations inferred from text-mining the literature.

disgenetrdf
version: v2.1.0