Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP240937.RA4vCxpnaouLNcqOrw8qRuEmcYUcDumKvfpWxMtzWdtmg130_assertion> ?p ?o ?g. }
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- NP240937.RA4vCxpnaouLNcqOrw8qRuEmcYUcDumKvfpWxMtzWdtmg130_assertion type Assertion NP240937.RA4vCxpnaouLNcqOrw8qRuEmcYUcDumKvfpWxMtzWdtmg130_head.
- NP240937.RA4vCxpnaouLNcqOrw8qRuEmcYUcDumKvfpWxMtzWdtmg130_assertion wasGeneratedBy ECO_0000203 NP240937.RA4vCxpnaouLNcqOrw8qRuEmcYUcDumKvfpWxMtzWdtmg130_provenance.
- NP240937.RA4vCxpnaouLNcqOrw8qRuEmcYUcDumKvfpWxMtzWdtmg130_assertion wasDerivedFrom befree-20140225 NP240937.RA4vCxpnaouLNcqOrw8qRuEmcYUcDumKvfpWxMtzWdtmg130_provenance.
- NP240937.RA4vCxpnaouLNcqOrw8qRuEmcYUcDumKvfpWxMtzWdtmg130_assertion SIO_000772 11318610 NP240937.RA4vCxpnaouLNcqOrw8qRuEmcYUcDumKvfpWxMtzWdtmg130_provenance.
- NP240937.RA4vCxpnaouLNcqOrw8qRuEmcYUcDumKvfpWxMtzWdtmg130_assertion evidence source_evidence_literature NP240937.RA4vCxpnaouLNcqOrw8qRuEmcYUcDumKvfpWxMtzWdtmg130_provenance.
- NP240937.RA4vCxpnaouLNcqOrw8qRuEmcYUcDumKvfpWxMtzWdtmg130_assertion description "[Mutations in MCOLN1 have been found to cause mucolipidosis type IV (MLIV; MIM 252650), a rare autosomal recessive lysosomal storage disorder found primarily in the Ashkenazi Jewish population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP240937.RA4vCxpnaouLNcqOrw8qRuEmcYUcDumKvfpWxMtzWdtmg130_provenance.