Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP4072.RA36Ia6YVIvMQSznFL_pKwOs3pAcJKMKYF3zqRdIqd6So130_assertion> ?p ?o ?g. }
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- NP4072.RA36Ia6YVIvMQSznFL_pKwOs3pAcJKMKYF3zqRdIqd6So130_assertion type Assertion NP4072.RA36Ia6YVIvMQSznFL_pKwOs3pAcJKMKYF3zqRdIqd6So130_head.
- NP4072.RA36Ia6YVIvMQSznFL_pKwOs3pAcJKMKYF3zqRdIqd6So130_assertion description "[We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4072.RA36Ia6YVIvMQSznFL_pKwOs3pAcJKMKYF3zqRdIqd6So130_provenance.
- NP4072.RA36Ia6YVIvMQSznFL_pKwOs3pAcJKMKYF3zqRdIqd6So130_assertion evidence source_evidence_curated NP4072.RA36Ia6YVIvMQSznFL_pKwOs3pAcJKMKYF3zqRdIqd6So130_provenance.
- NP4072.RA36Ia6YVIvMQSznFL_pKwOs3pAcJKMKYF3zqRdIqd6So130_assertion SIO_000772 15940695 NP4072.RA36Ia6YVIvMQSznFL_pKwOs3pAcJKMKYF3zqRdIqd6So130_provenance.
- NP4072.RA36Ia6YVIvMQSznFL_pKwOs3pAcJKMKYF3zqRdIqd6So130_assertion wasDerivedFrom uniprot-2016 NP4072.RA36Ia6YVIvMQSznFL_pKwOs3pAcJKMKYF3zqRdIqd6So130_provenance.
- NP4072.RA36Ia6YVIvMQSznFL_pKwOs3pAcJKMKYF3zqRdIqd6So130_assertion wasGeneratedBy ECO_0000218 NP4072.RA36Ia6YVIvMQSznFL_pKwOs3pAcJKMKYF3zqRdIqd6So130_provenance.