Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP839991.RAe4MdSY5PLO_DL8J62hf3xG6X6isccL67Me5vQl21IYw130_assertion> ?p ?o ?g. }
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- NP839991.RAe4MdSY5PLO_DL8J62hf3xG6X6isccL67Me5vQl21IYw130_assertion type Assertion NP839991.RAe4MdSY5PLO_DL8J62hf3xG6X6isccL67Me5vQl21IYw130_head.
- NP839991.RAe4MdSY5PLO_DL8J62hf3xG6X6isccL67Me5vQl21IYw130_assertion description "[We now show compound heterozygous mutations, Phe361fsX379 and Trp340Arg, in the zinc metalloproteinase (ZMPSTE24) gene in one of the four patients who had severe MAD associated with progeroid appearance and generalized lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP839991.RAe4MdSY5PLO_DL8J62hf3xG6X6isccL67Me5vQl21IYw130_provenance.
- NP839991.RAe4MdSY5PLO_DL8J62hf3xG6X6isccL67Me5vQl21IYw130_assertion evidence source_evidence_literature NP839991.RAe4MdSY5PLO_DL8J62hf3xG6X6isccL67Me5vQl21IYw130_provenance.
- NP839991.RAe4MdSY5PLO_DL8J62hf3xG6X6isccL67Me5vQl21IYw130_assertion SIO_000772 12913070 NP839991.RAe4MdSY5PLO_DL8J62hf3xG6X6isccL67Me5vQl21IYw130_provenance.
- NP839991.RAe4MdSY5PLO_DL8J62hf3xG6X6isccL67Me5vQl21IYw130_assertion wasDerivedFrom befree-20150227 NP839991.RAe4MdSY5PLO_DL8J62hf3xG6X6isccL67Me5vQl21IYw130_provenance.
- NP839991.RAe4MdSY5PLO_DL8J62hf3xG6X6isccL67Me5vQl21IYw130_assertion wasGeneratedBy ECO_0000203 NP839991.RAe4MdSY5PLO_DL8J62hf3xG6X6isccL67Me5vQl21IYw130_provenance.