Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1069174.RAmgfaRgQcJUzp1vDyQmHfWn7DCazaLYoiHxZtJopTV9E130_assertion> ?p ?o ?g. }
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- NP1069174.RAmgfaRgQcJUzp1vDyQmHfWn7DCazaLYoiHxZtJopTV9E130_assertion type Assertion NP1069174.RAmgfaRgQcJUzp1vDyQmHfWn7DCazaLYoiHxZtJopTV9E130_head.
- NP1069174.RAmgfaRgQcJUzp1vDyQmHfWn7DCazaLYoiHxZtJopTV9E130_assertion description "[Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder caused by mutations in the MCOLN1 gene coding for mucolipin-1 (TRPML1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1069174.RAmgfaRgQcJUzp1vDyQmHfWn7DCazaLYoiHxZtJopTV9E130_provenance.
- NP1069174.RAmgfaRgQcJUzp1vDyQmHfWn7DCazaLYoiHxZtJopTV9E130_assertion evidence source_evidence_literature NP1069174.RAmgfaRgQcJUzp1vDyQmHfWn7DCazaLYoiHxZtJopTV9E130_provenance.
- NP1069174.RAmgfaRgQcJUzp1vDyQmHfWn7DCazaLYoiHxZtJopTV9E130_assertion SIO_000772 23585356 NP1069174.RAmgfaRgQcJUzp1vDyQmHfWn7DCazaLYoiHxZtJopTV9E130_provenance.
- NP1069174.RAmgfaRgQcJUzp1vDyQmHfWn7DCazaLYoiHxZtJopTV9E130_assertion wasDerivedFrom befree-2016 NP1069174.RAmgfaRgQcJUzp1vDyQmHfWn7DCazaLYoiHxZtJopTV9E130_provenance.
- NP1069174.RAmgfaRgQcJUzp1vDyQmHfWn7DCazaLYoiHxZtJopTV9E130_assertion wasGeneratedBy ECO_0000203 NP1069174.RAmgfaRgQcJUzp1vDyQmHfWn7DCazaLYoiHxZtJopTV9E130_provenance.