Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP15942.RABEZxul7ORS18lIK5xT4ze7muFEO42BOkHAcw4umyAq8130_assertion> ?p ?o ?g. }
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- NP15942.RABEZxul7ORS18lIK5xT4ze7muFEO42BOkHAcw4umyAq8130_assertion type Assertion NP15942.RABEZxul7ORS18lIK5xT4ze7muFEO42BOkHAcw4umyAq8130_head.
- NP15942.RABEZxul7ORS18lIK5xT4ze7muFEO42BOkHAcw4umyAq8130_assertion description "[Mutations in FLNA have been shown to cause a broad range of congenital malformations, including otopalatodigital syndrome type 2 in which a missense mutation occurring in exon 5 of FLNA results in omphalocele as part of the phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP15942.RABEZxul7ORS18lIK5xT4ze7muFEO42BOkHAcw4umyAq8130_provenance.
- NP15942.RABEZxul7ORS18lIK5xT4ze7muFEO42BOkHAcw4umyAq8130_assertion evidence source_evidence_curated NP15942.RABEZxul7ORS18lIK5xT4ze7muFEO42BOkHAcw4umyAq8130_provenance.
- NP15942.RABEZxul7ORS18lIK5xT4ze7muFEO42BOkHAcw4umyAq8130_assertion SIO_000772 15378534 NP15942.RABEZxul7ORS18lIK5xT4ze7muFEO42BOkHAcw4umyAq8130_provenance.
- NP15942.RABEZxul7ORS18lIK5xT4ze7muFEO42BOkHAcw4umyAq8130_assertion wasDerivedFrom ctd_human-20130708 NP15942.RABEZxul7ORS18lIK5xT4ze7muFEO42BOkHAcw4umyAq8130_provenance.
- NP15942.RABEZxul7ORS18lIK5xT4ze7muFEO42BOkHAcw4umyAq8130_assertion wasGeneratedBy ECO_0000218 NP15942.RABEZxul7ORS18lIK5xT4ze7muFEO42BOkHAcw4umyAq8130_provenance.