Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP645906.RATHLjz0jc6z76sMyzC9IapOBToLdz5Cbh_U30_eLKBG8130_assertion> ?p ?o ?g. }
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- NP645906.RATHLjz0jc6z76sMyzC9IapOBToLdz5Cbh_U30_eLKBG8130_assertion type Assertion NP645906.RATHLjz0jc6z76sMyzC9IapOBToLdz5Cbh_U30_eLKBG8130_head.
- NP645906.RATHLjz0jc6z76sMyzC9IapOBToLdz5Cbh_U30_eLKBG8130_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." NP645906.RATHLjz0jc6z76sMyzC9IapOBToLdz5Cbh_U30_eLKBG8130_provenance.
- NP645906.RATHLjz0jc6z76sMyzC9IapOBToLdz5Cbh_U30_eLKBG8130_assertion evidence source_evidence_literature NP645906.RATHLjz0jc6z76sMyzC9IapOBToLdz5Cbh_U30_eLKBG8130_provenance.
- NP645906.RATHLjz0jc6z76sMyzC9IapOBToLdz5Cbh_U30_eLKBG8130_assertion SIO_000772 18089698 NP645906.RATHLjz0jc6z76sMyzC9IapOBToLdz5Cbh_U30_eLKBG8130_provenance.
- NP645906.RATHLjz0jc6z76sMyzC9IapOBToLdz5Cbh_U30_eLKBG8130_assertion wasDerivedFrom befree-2016 NP645906.RATHLjz0jc6z76sMyzC9IapOBToLdz5Cbh_U30_eLKBG8130_provenance.
- NP645906.RATHLjz0jc6z76sMyzC9IapOBToLdz5Cbh_U30_eLKBG8130_assertion wasGeneratedBy ECO_0000203 NP645906.RATHLjz0jc6z76sMyzC9IapOBToLdz5Cbh_U30_eLKBG8130_provenance.