Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_assertion> ?p ?o ?g. }
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- NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_assertion type Assertion NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_head.
- NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_assertion description "[Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance.
- NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_assertion evidence source_evidence_curated NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance.
- NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_assertion SIO_000772 20339381 NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance.
- NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_assertion wasDerivedFrom uniprot-20130724 NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance.
- NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_assertion wasGeneratedBy ECO_0000218 NP493.RANBCb8HopqNtNyqYVWV3R6OBk42XnTImto5kpoBzdEzc130_provenance.