Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP349972.RAf9vA0w1Su2sOIpAgMpsJvUrNQS-M043fbqoUV6YKwVk130_assertion> ?p ?o ?g. }
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- NP349972.RAf9vA0w1Su2sOIpAgMpsJvUrNQS-M043fbqoUV6YKwVk130_assertion type Assertion NP349972.RAf9vA0w1Su2sOIpAgMpsJvUrNQS-M043fbqoUV6YKwVk130_head.
- NP349972.RAf9vA0w1Su2sOIpAgMpsJvUrNQS-M043fbqoUV6YKwVk130_assertion description "[To our knowledge, we report the first molecular confirmation of postzygotic mosaicism on an ichthyosiform skin lesion in the mother of a girl with X-linked dominant chondrodysplasia punctata associated with a novel EBP mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP349972.RAf9vA0w1Su2sOIpAgMpsJvUrNQS-M043fbqoUV6YKwVk130_provenance.
- NP349972.RAf9vA0w1Su2sOIpAgMpsJvUrNQS-M043fbqoUV6YKwVk130_assertion evidence source_evidence_literature NP349972.RAf9vA0w1Su2sOIpAgMpsJvUrNQS-M043fbqoUV6YKwVk130_provenance.
- NP349972.RAf9vA0w1Su2sOIpAgMpsJvUrNQS-M043fbqoUV6YKwVk130_assertion SIO_000772 21931045 NP349972.RAf9vA0w1Su2sOIpAgMpsJvUrNQS-M043fbqoUV6YKwVk130_provenance.
- NP349972.RAf9vA0w1Su2sOIpAgMpsJvUrNQS-M043fbqoUV6YKwVk130_assertion wasDerivedFrom befree-20140225 NP349972.RAf9vA0w1Su2sOIpAgMpsJvUrNQS-M043fbqoUV6YKwVk130_provenance.
- NP349972.RAf9vA0w1Su2sOIpAgMpsJvUrNQS-M043fbqoUV6YKwVk130_assertion wasGeneratedBy ECO_0000203 NP349972.RAf9vA0w1Su2sOIpAgMpsJvUrNQS-M043fbqoUV6YKwVk130_provenance.