Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP242484.RASV5NNjPvGd9sY7OfOe5I7PHgSr3D0fvTIkCX09ZuXII130_assertion> ?p ?o ?g. }
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- NP242484.RASV5NNjPvGd9sY7OfOe5I7PHgSr3D0fvTIkCX09ZuXII130_assertion type Assertion NP242484.RASV5NNjPvGd9sY7OfOe5I7PHgSr3D0fvTIkCX09ZuXII130_head.
- NP242484.RASV5NNjPvGd9sY7OfOe5I7PHgSr3D0fvTIkCX09ZuXII130_assertion description "[There are two known disorders of creatine synthesis (both transmitted as autosomal recessive traits: arginine: glycine amidinotransferase (AGAT) deficiency; OMIM 602360; and guanidinoacetate methyltransferase (GAMT) deficiency (OMIM 601240)) and one disorder of creatine transport (X-linked recessive SLC6A8 creatine transporter deficiency (OMIM 300036)).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP242484.RASV5NNjPvGd9sY7OfOe5I7PHgSr3D0fvTIkCX09ZuXII130_provenance.
- NP242484.RASV5NNjPvGd9sY7OfOe5I7PHgSr3D0fvTIkCX09ZuXII130_assertion evidence source_evidence_literature NP242484.RASV5NNjPvGd9sY7OfOe5I7PHgSr3D0fvTIkCX09ZuXII130_provenance.
- NP242484.RASV5NNjPvGd9sY7OfOe5I7PHgSr3D0fvTIkCX09ZuXII130_assertion SIO_000772 21308988 NP242484.RASV5NNjPvGd9sY7OfOe5I7PHgSr3D0fvTIkCX09ZuXII130_provenance.
- NP242484.RASV5NNjPvGd9sY7OfOe5I7PHgSr3D0fvTIkCX09ZuXII130_assertion wasDerivedFrom befree-20140225 NP242484.RASV5NNjPvGd9sY7OfOe5I7PHgSr3D0fvTIkCX09ZuXII130_provenance.
- NP242484.RASV5NNjPvGd9sY7OfOe5I7PHgSr3D0fvTIkCX09ZuXII130_assertion wasGeneratedBy ECO_0000203 NP242484.RASV5NNjPvGd9sY7OfOe5I7PHgSr3D0fvTIkCX09ZuXII130_provenance.