RGD Annotation Report for Skin AbnormalitiesRat Genome Database

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An association has been curated linking HCCS and Skin Abnormalities in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from Wimplinger I, etal., Am J Hum Genet. 2006 Nov;79(5):878-89. Epub 2006 Sep 6.
5 additional annotations were made from Wimplinger I, etal., Am J Hum Genet. 2006 Nov;79(5):878-89. Epub 2006 Sep 6.
1802 RGD objects have been annotated to Skin Abnormalities (DOID:9001946)
8 papers in RGD have been used to annotate HCCS
Curation Notes: microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C

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