RGD Annotation Report for phenylketonuriaRat Genome Database

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An association has been curated linking NEFH and phenylketonuria in Homo sapiens.

The association was inferred from sequence orthology (ISO)
The annotation was made from Reynolds R, etal., Exp Neurol. 1993 Dec;124(2):357-67.
The annotation has been inferred from sequence orthology with Nefh (Rattus norvegicus) [(IEP) inferred from expression pattern]
3 additional annotations were made from Reynolds R, etal., Exp Neurol. 1993 Dec;124(2):357-67.
48 RGD objects have been annotated to phenylketonuria (DOID:9281)
36 papers in RGD have been used to annotate NEFH
Curation Notes: protein:decreased expression:brain

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