Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1397738.RAK_P8BKQUgJDOYzfMb8WjJDvIDmB063ofpWdXK37ZTo0130_assertion> ?p ?o ?g. }
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- NP1397738.RAK_P8BKQUgJDOYzfMb8WjJDvIDmB063ofpWdXK37ZTo0130_assertion type Assertion NP1397738.RAK_P8BKQUgJDOYzfMb8WjJDvIDmB063ofpWdXK37ZTo0130_head.
- NP1397738.RAK_P8BKQUgJDOYzfMb8WjJDvIDmB063ofpWdXK37ZTo0130_assertion wasGeneratedBy ECO_0000203 NP1397738.RAK_P8BKQUgJDOYzfMb8WjJDvIDmB063ofpWdXK37ZTo0130_provenance.
- NP1397738.RAK_P8BKQUgJDOYzfMb8WjJDvIDmB063ofpWdXK37ZTo0130_assertion wasDerivedFrom befree-2016 NP1397738.RAK_P8BKQUgJDOYzfMb8WjJDvIDmB063ofpWdXK37ZTo0130_provenance.
- NP1397738.RAK_P8BKQUgJDOYzfMb8WjJDvIDmB063ofpWdXK37ZTo0130_assertion SIO_000772 9633819 NP1397738.RAK_P8BKQUgJDOYzfMb8WjJDvIDmB063ofpWdXK37ZTo0130_provenance.
- NP1397738.RAK_P8BKQUgJDOYzfMb8WjJDvIDmB063ofpWdXK37ZTo0130_assertion evidence source_evidence_literature NP1397738.RAK_P8BKQUgJDOYzfMb8WjJDvIDmB063ofpWdXK37ZTo0130_provenance.
- NP1397738.RAK_P8BKQUgJDOYzfMb8WjJDvIDmB063ofpWdXK37ZTo0130_assertion description "[The associated genetic defects characterized revealed compound heterozygosity for a splice defect leading to skipping of exon 8, due to a G-->A transition at position -1 of the exon 8 splice donor site, and a point mutation leading to a Hisl08Pro change (CAT-->CCT) in two patients (siblings) with mild CESD phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1397738.RAK_P8BKQUgJDOYzfMb8WjJDvIDmB063ofpWdXK37ZTo0130_provenance.