Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP579747.RADXnPY9BL1tb78O4t3RCQ52xR_shmJsgYVZnkkZGd6RY130_assertion> ?p ?o ?g. }
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- NP579747.RADXnPY9BL1tb78O4t3RCQ52xR_shmJsgYVZnkkZGd6RY130_assertion type Assertion NP579747.RADXnPY9BL1tb78O4t3RCQ52xR_shmJsgYVZnkkZGd6RY130_head.
- NP579747.RADXnPY9BL1tb78O4t3RCQ52xR_shmJsgYVZnkkZGd6RY130_assertion description "[Molecular study of the fibulin-5 (FBLN5) gene in a large consanguineous Turkish family with four patients affected by AR cutis laxa type I demonstrated the presence of a homozygous missense mutation (T998C) in the FBLN5 gene resulting in a serine-to-proline (S227P) substitution in the fourth calcium-binding epidermal growth factor-like domain of fibulin-5 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP579747.RADXnPY9BL1tb78O4t3RCQ52xR_shmJsgYVZnkkZGd6RY130_provenance.
- NP579747.RADXnPY9BL1tb78O4t3RCQ52xR_shmJsgYVZnkkZGd6RY130_assertion evidence source_evidence_literature NP579747.RADXnPY9BL1tb78O4t3RCQ52xR_shmJsgYVZnkkZGd6RY130_provenance.
- NP579747.RADXnPY9BL1tb78O4t3RCQ52xR_shmJsgYVZnkkZGd6RY130_assertion SIO_000772 12189163 NP579747.RADXnPY9BL1tb78O4t3RCQ52xR_shmJsgYVZnkkZGd6RY130_provenance.
- NP579747.RADXnPY9BL1tb78O4t3RCQ52xR_shmJsgYVZnkkZGd6RY130_assertion wasDerivedFrom befree-20140225 NP579747.RADXnPY9BL1tb78O4t3RCQ52xR_shmJsgYVZnkkZGd6RY130_provenance.
- NP579747.RADXnPY9BL1tb78O4t3RCQ52xR_shmJsgYVZnkkZGd6RY130_assertion wasGeneratedBy ECO_0000203 NP579747.RADXnPY9BL1tb78O4t3RCQ52xR_shmJsgYVZnkkZGd6RY130_provenance.