Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP217406.RAXPFiRxSiUfJKbUhs5-l-11o7lP9WqXW3l-l9UT2Rk9s130_assertion> ?p ?o ?g. }
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- NP217406.RAXPFiRxSiUfJKbUhs5-l-11o7lP9WqXW3l-l9UT2Rk9s130_assertion type Assertion NP217406.RAXPFiRxSiUfJKbUhs5-l-11o7lP9WqXW3l-l9UT2Rk9s130_head.
- NP217406.RAXPFiRxSiUfJKbUhs5-l-11o7lP9WqXW3l-l9UT2Rk9s130_assertion description "[The aim of this study was to identify a GNAS mutation in a patient with a severe form of AHO and pseudohypoparathyroidism type 1a with phocomelia and to perform PGD on embryos derived by in vitro fertilization to deliver an unaffected infant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP217406.RAXPFiRxSiUfJKbUhs5-l-11o7lP9WqXW3l-l9UT2Rk9s130_provenance.
- NP217406.RAXPFiRxSiUfJKbUhs5-l-11o7lP9WqXW3l-l9UT2Rk9s130_assertion evidence source_evidence_literature NP217406.RAXPFiRxSiUfJKbUhs5-l-11o7lP9WqXW3l-l9UT2Rk9s130_provenance.
- NP217406.RAXPFiRxSiUfJKbUhs5-l-11o7lP9WqXW3l-l9UT2Rk9s130_assertion SIO_000772 18089698 NP217406.RAXPFiRxSiUfJKbUhs5-l-11o7lP9WqXW3l-l9UT2Rk9s130_provenance.
- NP217406.RAXPFiRxSiUfJKbUhs5-l-11o7lP9WqXW3l-l9UT2Rk9s130_assertion wasDerivedFrom befree-20140225 NP217406.RAXPFiRxSiUfJKbUhs5-l-11o7lP9WqXW3l-l9UT2Rk9s130_provenance.
- NP217406.RAXPFiRxSiUfJKbUhs5-l-11o7lP9WqXW3l-l9UT2Rk9s130_assertion wasGeneratedBy ECO_0000203 NP217406.RAXPFiRxSiUfJKbUhs5-l-11o7lP9WqXW3l-l9UT2Rk9s130_provenance.