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An association has been curated linking VPS13B and Multiple Abnormalities in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from Kolehmainen J, etal., Am J Hum Genet 2003 Jun;72(6):1359-69. Epub 2003 May 2.
5748 RGD objects have been annotated to Multiple Abnormalities (DOID:9007653)
6 papers in RGD have been used to annotate VPS13B
Qualifier: susceptibility
Curation Notes: Cohen syndrome, OMIM:216550:DNA:deletion mutation, nonsense mutation, missense mutation

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