RGD Annotation Report for Cataract Microcornea SyndromeRat Genome Database

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An association has been curated linking Maf and Cataract Microcornea Syndrome in Chinchilla lanigera.

The association was inferred from sequence orthology (ISO)
The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
The annotation has been inferred from sequence orthology with MAF (Homo sapiens)
2 RGD objects have been annotated to Cataract Microcornea Syndrome (DOID:9003799)
2 papers in RGD have been used to annotate Maf
Curation Notes: DNA:missense mutations: :p.R299S (c.895C>A), p.K320E (c.958A>G) (human)
Original References(s): PMID:19182255 REF_RGD_ID:13204740

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