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- source_evidence_literature type ECO_0000212 NP976769.RAhiOZqyVfSjEbU_cyOn9IFbXJn_aUIi9TrKjdIaPGPXg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP976769.RAhiOZqyVfSjEbU_cyOn9IFbXJn_aUIi9TrKjdIaPGPXg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP976769.RAhiOZqyVfSjEbU_cyOn9IFbXJn_aUIi9TrKjdIaPGPXg130_provenance.
- NP976769.RAhiOZqyVfSjEbU_cyOn9IFbXJn_aUIi9TrKjdIaPGPXg130_assertion description "[Recessive mutations in the FRAS1-related extracellular matrix 1 (FREM1) gene have been shown to cause bifid nose with or without anorectal and renal anomalies (BNAR) syndrome and Manitoba oculotrichoanal (MOTA) syndrome, but have not been previously implicated in the development of CDH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP976769.RAhiOZqyVfSjEbU_cyOn9IFbXJn_aUIi9TrKjdIaPGPXg130_provenance.
- NP976769.RAhiOZqyVfSjEbU_cyOn9IFbXJn_aUIi9TrKjdIaPGPXg130_assertion evidence source_evidence_literature NP976769.RAhiOZqyVfSjEbU_cyOn9IFbXJn_aUIi9TrKjdIaPGPXg130_provenance.
- NP976769.RAhiOZqyVfSjEbU_cyOn9IFbXJn_aUIi9TrKjdIaPGPXg130_assertion SIO_000772 23221805 NP976769.RAhiOZqyVfSjEbU_cyOn9IFbXJn_aUIi9TrKjdIaPGPXg130_provenance.
- NP976769.RAhiOZqyVfSjEbU_cyOn9IFbXJn_aUIi9TrKjdIaPGPXg130_assertion wasDerivedFrom befree-20150227 NP976769.RAhiOZqyVfSjEbU_cyOn9IFbXJn_aUIi9TrKjdIaPGPXg130_provenance.
- NP976769.RAhiOZqyVfSjEbU_cyOn9IFbXJn_aUIi9TrKjdIaPGPXg130_assertion wasGeneratedBy ECO_0000203 NP976769.RAhiOZqyVfSjEbU_cyOn9IFbXJn_aUIi9TrKjdIaPGPXg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP976769.RAhiOZqyVfSjEbU_cyOn9IFbXJn_aUIi9TrKjdIaPGPXg130_provenance.