RGD Annotation Report for thrombophilia due to thrombin defectRat Genome Database

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An association has been curated linking CV249511 and thrombophilia due to thrombin defect 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
5 RGD objects have been annotated to thrombophilia due to thrombin defect (DOID:0111907)
0 papers in RGD have been used to annotate CV249511
Curation Notes: ClinVar Annotator: match by term: Thrombophilia due to thrombin defect
Original References(s): PMID:25741868 PMID:28492532

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