RGD Annotation Report for common variable immunodeficiencyRat Genome Database

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An association has been curated linking MBL2 and common variable immunodeficiency in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from Mullighan CG, etal., Scand J Immunol. 2000 Feb;51(2):111-22.
2 additional annotations were made from Mullighan CG, etal., Scand J Immunol. 2000 Feb;51(2):111-22.
483 RGD objects have been annotated to common variable immunodeficiency (DOID:12177)
123 papers in RGD have been used to annotate MBL2
Curation Notes: DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human)

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.