Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP277058.RAjqWWftX42ghtNCvHmth2fr_McCR_T3m5nk4fcXWfAYE130_assertion> ?p ?o ?g. }
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- NP277058.RAjqWWftX42ghtNCvHmth2fr_McCR_T3m5nk4fcXWfAYE130_assertion type Assertion NP277058.RAjqWWftX42ghtNCvHmth2fr_McCR_T3m5nk4fcXWfAYE130_head.
- NP277058.RAjqWWftX42ghtNCvHmth2fr_McCR_T3m5nk4fcXWfAYE130_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." NP277058.RAjqWWftX42ghtNCvHmth2fr_McCR_T3m5nk4fcXWfAYE130_provenance.
- NP277058.RAjqWWftX42ghtNCvHmth2fr_McCR_T3m5nk4fcXWfAYE130_assertion evidence source_evidence_literature NP277058.RAjqWWftX42ghtNCvHmth2fr_McCR_T3m5nk4fcXWfAYE130_provenance.
- NP277058.RAjqWWftX42ghtNCvHmth2fr_McCR_T3m5nk4fcXWfAYE130_assertion SIO_000772 18089698 NP277058.RAjqWWftX42ghtNCvHmth2fr_McCR_T3m5nk4fcXWfAYE130_provenance.
- NP277058.RAjqWWftX42ghtNCvHmth2fr_McCR_T3m5nk4fcXWfAYE130_assertion wasDerivedFrom befree-20140225 NP277058.RAjqWWftX42ghtNCvHmth2fr_McCR_T3m5nk4fcXWfAYE130_provenance.
- NP277058.RAjqWWftX42ghtNCvHmth2fr_McCR_T3m5nk4fcXWfAYE130_assertion wasGeneratedBy ECO_0000203 NP277058.RAjqWWftX42ghtNCvHmth2fr_McCR_T3m5nk4fcXWfAYE130_provenance.