Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1084877.RAOQXoxD39mMC-O6V9u5vKN_qW8MeA2BQjkYmFckNK-hM130_assertion> ?p ?o ?g. }
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- NP1084877.RAOQXoxD39mMC-O6V9u5vKN_qW8MeA2BQjkYmFckNK-hM130_assertion type Assertion NP1084877.RAOQXoxD39mMC-O6V9u5vKN_qW8MeA2BQjkYmFckNK-hM130_head.
- NP1084877.RAOQXoxD39mMC-O6V9u5vKN_qW8MeA2BQjkYmFckNK-hM130_assertion description "[Whereas mutations in ADAMTS17 have recently been identified in autosomal recessive Weill-Marchesani-like syndrome in humans and dogs presenting with ophthalmologic, cardiac, and skeletal abnormalities, no disease associations have been described for CERS3 (ceramide synthase 3) and FLJ42289 so far.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1084877.RAOQXoxD39mMC-O6V9u5vKN_qW8MeA2BQjkYmFckNK-hM130_provenance.
- NP1084877.RAOQXoxD39mMC-O6V9u5vKN_qW8MeA2BQjkYmFckNK-hM130_assertion evidence source_evidence_literature NP1084877.RAOQXoxD39mMC-O6V9u5vKN_qW8MeA2BQjkYmFckNK-hM130_provenance.
- NP1084877.RAOQXoxD39mMC-O6V9u5vKN_qW8MeA2BQjkYmFckNK-hM130_assertion SIO_000772 23754960 NP1084877.RAOQXoxD39mMC-O6V9u5vKN_qW8MeA2BQjkYmFckNK-hM130_provenance.
- NP1084877.RAOQXoxD39mMC-O6V9u5vKN_qW8MeA2BQjkYmFckNK-hM130_assertion wasDerivedFrom befree-2016 NP1084877.RAOQXoxD39mMC-O6V9u5vKN_qW8MeA2BQjkYmFckNK-hM130_provenance.
- NP1084877.RAOQXoxD39mMC-O6V9u5vKN_qW8MeA2BQjkYmFckNK-hM130_assertion wasGeneratedBy ECO_0000203 NP1084877.RAOQXoxD39mMC-O6V9u5vKN_qW8MeA2BQjkYmFckNK-hM130_provenance.