Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP428483.RAOBy6DMppXwVf3FJTER258hJg9U-bEP1x6pBzyRQ3Los130_assertion> ?p ?o ?g. }
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- NP428483.RAOBy6DMppXwVf3FJTER258hJg9U-bEP1x6pBzyRQ3Los130_assertion type Assertion NP428483.RAOBy6DMppXwVf3FJTER258hJg9U-bEP1x6pBzyRQ3Los130_head.
- NP428483.RAOBy6DMppXwVf3FJTER258hJg9U-bEP1x6pBzyRQ3Los130_assertion description "[While mutations in the NDUFS3 gene thus result in Leigh syndrome, a dissimilar clinical phenotype is observed in mutations in the NDUFV2 and NDUFS2 genes, resulting in encephalomyopathy and cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP428483.RAOBy6DMppXwVf3FJTER258hJg9U-bEP1x6pBzyRQ3Los130_provenance.
- NP428483.RAOBy6DMppXwVf3FJTER258hJg9U-bEP1x6pBzyRQ3Los130_assertion evidence source_evidence_literature NP428483.RAOBy6DMppXwVf3FJTER258hJg9U-bEP1x6pBzyRQ3Los130_provenance.
- NP428483.RAOBy6DMppXwVf3FJTER258hJg9U-bEP1x6pBzyRQ3Los130_assertion SIO_000772 14729820 NP428483.RAOBy6DMppXwVf3FJTER258hJg9U-bEP1x6pBzyRQ3Los130_provenance.
- NP428483.RAOBy6DMppXwVf3FJTER258hJg9U-bEP1x6pBzyRQ3Los130_assertion wasDerivedFrom befree-2016 NP428483.RAOBy6DMppXwVf3FJTER258hJg9U-bEP1x6pBzyRQ3Los130_provenance.
- NP428483.RAOBy6DMppXwVf3FJTER258hJg9U-bEP1x6pBzyRQ3Los130_assertion wasGeneratedBy ECO_0000203 NP428483.RAOBy6DMppXwVf3FJTER258hJg9U-bEP1x6pBzyRQ3Los130_provenance.