Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP518555.RAnXR9nxWmRnFh-xzbGQNl4YUhXY9wSPpIrJrCf8M83y4130_assertion> ?p ?o ?g. }
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- NP518555.RAnXR9nxWmRnFh-xzbGQNl4YUhXY9wSPpIrJrCf8M83y4130_assertion type Assertion NP518555.RAnXR9nxWmRnFh-xzbGQNl4YUhXY9wSPpIrJrCf8M83y4130_head.
- NP518555.RAnXR9nxWmRnFh-xzbGQNl4YUhXY9wSPpIrJrCf8M83y4130_assertion description "[The disorder is caused by mutations in regulatory regions of the GNAS gene (GNAS complex locus) that lead to interferences in the methylation status of alternative GNAS promoters, such as exon A/B, NESP55, and XL alpha-s. PHPIb comprises disorders that show distinctive changes in methylation status but share the same clinical phenotype: (a) loss of methylation only at exon A/B of the GNAS gene and involving no other obvious epigenetic abnormalities [e.g., those caused by heterozygous microdeletions in the STX16 (syntaxin 16) region and found in many patients with autosomal dominant (AD) PHPIb]; (b) methylation abnormalities at several differentially methylated regions (DMRs), which are observed in most patients with sporadic PHPIb and some families with AD PHPIb.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP518555.RAnXR9nxWmRnFh-xzbGQNl4YUhXY9wSPpIrJrCf8M83y4130_provenance.
- NP518555.RAnXR9nxWmRnFh-xzbGQNl4YUhXY9wSPpIrJrCf8M83y4130_assertion evidence source_evidence_literature NP518555.RAnXR9nxWmRnFh-xzbGQNl4YUhXY9wSPpIrJrCf8M83y4130_provenance.
- NP518555.RAnXR9nxWmRnFh-xzbGQNl4YUhXY9wSPpIrJrCf8M83y4130_assertion SIO_000772 18617581 NP518555.RAnXR9nxWmRnFh-xzbGQNl4YUhXY9wSPpIrJrCf8M83y4130_provenance.
- NP518555.RAnXR9nxWmRnFh-xzbGQNl4YUhXY9wSPpIrJrCf8M83y4130_assertion wasDerivedFrom befree-20140225 NP518555.RAnXR9nxWmRnFh-xzbGQNl4YUhXY9wSPpIrJrCf8M83y4130_provenance.
- NP518555.RAnXR9nxWmRnFh-xzbGQNl4YUhXY9wSPpIrJrCf8M83y4130_assertion wasGeneratedBy ECO_0000203 NP518555.RAnXR9nxWmRnFh-xzbGQNl4YUhXY9wSPpIrJrCf8M83y4130_provenance.