RGD Annotation Report for classic citrullinemiaRat Genome Database

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An association has been curated linking CV21373 and classic citrullinemia in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4 RGD objects have been annotated to classic citrullinemia (DOID:0070340)
1 papers in RGD have been used to annotate CV21373
Curation Notes: ClinVar Annotator: match by term: Citrullinemia type I
Original References(s): PMID:11708871 PMID:11941481 PMID:21228398 PMID:25087612 PMID:25741868 PMID:28492532

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