RGD Annotation Report for Phelan-McDermid syndromeRat Genome Database

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An association has been curated linking Shank3^em1Bux and Phelan-McDermid syndrome in Rattus norvegicus.

The association was inferred from mutant phenotype (IMP)
The annotation was made from Harony-Nicolas H, etal., Elife. 2017 Jan 31;6. doi: 10.7554/eLife.18904.
4 additional annotations were made from Harony-Nicolas H, etal., Elife. 2017 Jan 31;6. doi: 10.7554/eLife.18904.
82 RGD objects have been annotated to Phelan-McDermid syndrome (DOID:0080354)
1 papers in RGD have been used to annotate Shank3^em1Bux

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