Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_assertion> ?p ?o ?g. }
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- NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_assertion type Assertion NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_head.
- NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_assertion description "[Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p.I179S and c.1204+1G>A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_provenance.
- NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_assertion evidence source_evidence_literature NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_provenance.
- NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_assertion SIO_000772 20339381 NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_provenance.
- NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_assertion wasDerivedFrom befree-2016 NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_provenance.
- NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_assertion wasGeneratedBy ECO_0000203 NP802624.RAeaa7A27mA5-JL68FTNF7ULsP6sQEZeifB74MtSgQ5iM130_provenance.