Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_assertion> ?p ?o ?g. }
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- NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_assertion type Assertion NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_head.
- NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_assertion description "[We have therefore assessed the entire coding region of IMPG1 by exon amplification and subsequent single stranded conformational analysis in patients from 6q linked multigeneration families diagnosed with PBCRA and MCDR1, as well as a single patient from an autosomal dominant STGD pedigree unlinked to either of the two known STGD2 and STGD3 loci on chromosomes 13q and 6q, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_provenance.
- NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_assertion evidence source_evidence_literature NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_provenance.
- NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_assertion SIO_000772 9719369 NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_provenance.
- NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_assertion wasDerivedFrom befree-20140225 NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_provenance.
- NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_assertion wasGeneratedBy ECO_0000203 NP505438.RAkPcs3U-83b0ey_U2JOAriU0u4trQDgv3mcuNhpSRMWE130_provenance.