RGD Annotation Report for NyctalopiaRat Genome Database

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An association has been curated linking PRPS1 and Nyctalopia in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from Almoguera B, etal., Orphanet J Rare Dis. 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9.
6 additional annotations were made from Almoguera B, etal., Orphanet J Rare Dis. 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9.
233 RGD objects have been annotated to Nyctalopia (HP:0000662)
11 papers in RGD have been used to annotate PRPS1
Curation Notes: DNA:missense mutation:exon:p.S16P

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