Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP315763.RABGll1SK5smfVzFVkRPLpZ5X2PtP8q8I5pLhttTIMXmw130_assertion> ?p ?o ?g. }
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- NP315763.RABGll1SK5smfVzFVkRPLpZ5X2PtP8q8I5pLhttTIMXmw130_assertion type Assertion NP315763.RABGll1SK5smfVzFVkRPLpZ5X2PtP8q8I5pLhttTIMXmw130_head.
- NP315763.RABGll1SK5smfVzFVkRPLpZ5X2PtP8q8I5pLhttTIMXmw130_assertion wasGeneratedBy ECO_0000203 NP315763.RABGll1SK5smfVzFVkRPLpZ5X2PtP8q8I5pLhttTIMXmw130_provenance.
- NP315763.RABGll1SK5smfVzFVkRPLpZ5X2PtP8q8I5pLhttTIMXmw130_assertion wasDerivedFrom befree-2016 NP315763.RABGll1SK5smfVzFVkRPLpZ5X2PtP8q8I5pLhttTIMXmw130_provenance.
- NP315763.RABGll1SK5smfVzFVkRPLpZ5X2PtP8q8I5pLhttTIMXmw130_assertion SIO_000772 11318610 NP315763.RABGll1SK5smfVzFVkRPLpZ5X2PtP8q8I5pLhttTIMXmw130_provenance.
- NP315763.RABGll1SK5smfVzFVkRPLpZ5X2PtP8q8I5pLhttTIMXmw130_assertion evidence source_evidence_literature NP315763.RABGll1SK5smfVzFVkRPLpZ5X2PtP8q8I5pLhttTIMXmw130_provenance.
- NP315763.RABGll1SK5smfVzFVkRPLpZ5X2PtP8q8I5pLhttTIMXmw130_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." NP315763.RABGll1SK5smfVzFVkRPLpZ5X2PtP8q8I5pLhttTIMXmw130_provenance.