Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP720044.RAcjgcLsqCmhmycn64oDVzWTNe518o7uwR65L7k5zUgy4130_assertion> ?p ?o ?g. }
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- NP720044.RAcjgcLsqCmhmycn64oDVzWTNe518o7uwR65L7k5zUgy4130_assertion type Assertion NP720044.RAcjgcLsqCmhmycn64oDVzWTNe518o7uwR65L7k5zUgy4130_head.
- NP720044.RAcjgcLsqCmhmycn64oDVzWTNe518o7uwR65L7k5zUgy4130_assertion wasGeneratedBy ECO_0000203 NP720044.RAcjgcLsqCmhmycn64oDVzWTNe518o7uwR65L7k5zUgy4130_provenance.
- NP720044.RAcjgcLsqCmhmycn64oDVzWTNe518o7uwR65L7k5zUgy4130_assertion wasDerivedFrom befree-2016 NP720044.RAcjgcLsqCmhmycn64oDVzWTNe518o7uwR65L7k5zUgy4130_provenance.
- NP720044.RAcjgcLsqCmhmycn64oDVzWTNe518o7uwR65L7k5zUgy4130_assertion SIO_000772 19211642 NP720044.RAcjgcLsqCmhmycn64oDVzWTNe518o7uwR65L7k5zUgy4130_provenance.
- NP720044.RAcjgcLsqCmhmycn64oDVzWTNe518o7uwR65L7k5zUgy4130_assertion evidence source_evidence_literature NP720044.RAcjgcLsqCmhmycn64oDVzWTNe518o7uwR65L7k5zUgy4130_provenance.
- NP720044.RAcjgcLsqCmhmycn64oDVzWTNe518o7uwR65L7k5zUgy4130_assertion description "[Most Shwachman-Diamond syndrome patients have mutations in the SBDS gene located at chromosome 7 and suffer from recurrent infections, due to neutropenia in combination with impaired neutrophil chemotaxis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP720044.RAcjgcLsqCmhmycn64oDVzWTNe518o7uwR65L7k5zUgy4130_provenance.