Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1084343.RAYCecKf4P12TDAR2hJqDREaMUe96I3-DIIcc3ovr9UUk130_assertion> ?p ?o ?g. }
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- NP1084343.RAYCecKf4P12TDAR2hJqDREaMUe96I3-DIIcc3ovr9UUk130_assertion type Assertion NP1084343.RAYCecKf4P12TDAR2hJqDREaMUe96I3-DIIcc3ovr9UUk130_head.
- NP1084343.RAYCecKf4P12TDAR2hJqDREaMUe96I3-DIIcc3ovr9UUk130_assertion wasGeneratedBy ECO_0000203 NP1084343.RAYCecKf4P12TDAR2hJqDREaMUe96I3-DIIcc3ovr9UUk130_provenance.
- NP1084343.RAYCecKf4P12TDAR2hJqDREaMUe96I3-DIIcc3ovr9UUk130_assertion wasDerivedFrom befree-2016 NP1084343.RAYCecKf4P12TDAR2hJqDREaMUe96I3-DIIcc3ovr9UUk130_provenance.
- NP1084343.RAYCecKf4P12TDAR2hJqDREaMUe96I3-DIIcc3ovr9UUk130_assertion SIO_000772 23748415 NP1084343.RAYCecKf4P12TDAR2hJqDREaMUe96I3-DIIcc3ovr9UUk130_provenance.
- NP1084343.RAYCecKf4P12TDAR2hJqDREaMUe96I3-DIIcc3ovr9UUk130_assertion evidence source_evidence_literature NP1084343.RAYCecKf4P12TDAR2hJqDREaMUe96I3-DIIcc3ovr9UUk130_provenance.
- NP1084343.RAYCecKf4P12TDAR2hJqDREaMUe96I3-DIIcc3ovr9UUk130_assertion description "[Mucopolysaccharidosis type IIIA (MPSIIIA) is a lysosomal storage disorder caused by mutations in N-sulfoglucosamine sulfohydrolase (SGSH), resulting in heparan sulfate (HS) accumulation and progressive neurodegeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1084343.RAYCecKf4P12TDAR2hJqDREaMUe96I3-DIIcc3ovr9UUk130_provenance.