Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP645907.RAxPyGKKPwbpvIin9IUcpRNDw6tlMPDzu5d_X5oRxpuzI130_assertion> ?p ?o ?g. }
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- NP645907.RAxPyGKKPwbpvIin9IUcpRNDw6tlMPDzu5d_X5oRxpuzI130_assertion type Assertion NP645907.RAxPyGKKPwbpvIin9IUcpRNDw6tlMPDzu5d_X5oRxpuzI130_head.
- NP645907.RAxPyGKKPwbpvIin9IUcpRNDw6tlMPDzu5d_X5oRxpuzI130_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." NP645907.RAxPyGKKPwbpvIin9IUcpRNDw6tlMPDzu5d_X5oRxpuzI130_provenance.
- NP645907.RAxPyGKKPwbpvIin9IUcpRNDw6tlMPDzu5d_X5oRxpuzI130_assertion evidence source_evidence_literature NP645907.RAxPyGKKPwbpvIin9IUcpRNDw6tlMPDzu5d_X5oRxpuzI130_provenance.
- NP645907.RAxPyGKKPwbpvIin9IUcpRNDw6tlMPDzu5d_X5oRxpuzI130_assertion SIO_000772 18089698 NP645907.RAxPyGKKPwbpvIin9IUcpRNDw6tlMPDzu5d_X5oRxpuzI130_provenance.
- NP645907.RAxPyGKKPwbpvIin9IUcpRNDw6tlMPDzu5d_X5oRxpuzI130_assertion wasDerivedFrom befree-2016 NP645907.RAxPyGKKPwbpvIin9IUcpRNDw6tlMPDzu5d_X5oRxpuzI130_provenance.
- NP645907.RAxPyGKKPwbpvIin9IUcpRNDw6tlMPDzu5d_X5oRxpuzI130_assertion wasGeneratedBy ECO_0000203 NP645907.RAxPyGKKPwbpvIin9IUcpRNDw6tlMPDzu5d_X5oRxpuzI130_provenance.