Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP429916.RA8Yy9kq4iGuhLfZ8CwrA889g9BO3CfNCdyyzaS90Zo2A130_assertion> ?p ?o ?g. }
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- NP429916.RA8Yy9kq4iGuhLfZ8CwrA889g9BO3CfNCdyyzaS90Zo2A130_assertion type Assertion NP429916.RA8Yy9kq4iGuhLfZ8CwrA889g9BO3CfNCdyyzaS90Zo2A130_head.
- NP429916.RA8Yy9kq4iGuhLfZ8CwrA889g9BO3CfNCdyyzaS90Zo2A130_assertion description "[We describe herein a proband with AHO and severe skeletal deformities (including phocomelia) related to a novel GNAS mutation and the delivery of a male infant with homozygous normal GNAS genotype after PGD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP429916.RA8Yy9kq4iGuhLfZ8CwrA889g9BO3CfNCdyyzaS90Zo2A130_provenance.
- NP429916.RA8Yy9kq4iGuhLfZ8CwrA889g9BO3CfNCdyyzaS90Zo2A130_assertion evidence source_evidence_literature NP429916.RA8Yy9kq4iGuhLfZ8CwrA889g9BO3CfNCdyyzaS90Zo2A130_provenance.
- NP429916.RA8Yy9kq4iGuhLfZ8CwrA889g9BO3CfNCdyyzaS90Zo2A130_assertion SIO_000772 18089698 NP429916.RA8Yy9kq4iGuhLfZ8CwrA889g9BO3CfNCdyyzaS90Zo2A130_provenance.
- NP429916.RA8Yy9kq4iGuhLfZ8CwrA889g9BO3CfNCdyyzaS90Zo2A130_assertion wasDerivedFrom befree-20150227 NP429916.RA8Yy9kq4iGuhLfZ8CwrA889g9BO3CfNCdyyzaS90Zo2A130_provenance.
- NP429916.RA8Yy9kq4iGuhLfZ8CwrA889g9BO3CfNCdyyzaS90Zo2A130_assertion wasGeneratedBy ECO_0000203 NP429916.RA8Yy9kq4iGuhLfZ8CwrA889g9BO3CfNCdyyzaS90Zo2A130_provenance.