Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP958108.RAtJLhNvugk1L0HV_oNIcur8KRSJOfeFL-dy4OYggJ5NY130_assertion> ?p ?o ?g. }
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- NP958108.RAtJLhNvugk1L0HV_oNIcur8KRSJOfeFL-dy4OYggJ5NY130_assertion type Assertion NP958108.RAtJLhNvugk1L0HV_oNIcur8KRSJOfeFL-dy4OYggJ5NY130_head.
- NP958108.RAtJLhNvugk1L0HV_oNIcur8KRSJOfeFL-dy4OYggJ5NY130_assertion description "[Familial and sporadic forms of PHP-Ib have distinct GNAS imprinting patterns: familial PHP-Ib patients have an exon A/B-only imprinting defect whereas sporadic PHP-Ib cases have abnormal imprinting of the three differentially methylated regions (DMRs) in GNAS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP958108.RAtJLhNvugk1L0HV_oNIcur8KRSJOfeFL-dy4OYggJ5NY130_provenance.
- NP958108.RAtJLhNvugk1L0HV_oNIcur8KRSJOfeFL-dy4OYggJ5NY130_assertion evidence source_evidence_literature NP958108.RAtJLhNvugk1L0HV_oNIcur8KRSJOfeFL-dy4OYggJ5NY130_provenance.
- NP958108.RAtJLhNvugk1L0HV_oNIcur8KRSJOfeFL-dy4OYggJ5NY130_assertion SIO_000772 22300135 NP958108.RAtJLhNvugk1L0HV_oNIcur8KRSJOfeFL-dy4OYggJ5NY130_provenance.
- NP958108.RAtJLhNvugk1L0HV_oNIcur8KRSJOfeFL-dy4OYggJ5NY130_assertion wasDerivedFrom befree-2016 NP958108.RAtJLhNvugk1L0HV_oNIcur8KRSJOfeFL-dy4OYggJ5NY130_provenance.
- NP958108.RAtJLhNvugk1L0HV_oNIcur8KRSJOfeFL-dy4OYggJ5NY130_assertion wasGeneratedBy ECO_0000203 NP958108.RAtJLhNvugk1L0HV_oNIcur8KRSJOfeFL-dy4OYggJ5NY130_provenance.