Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_assertion> ?p ?o ?g. }
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- NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_assertion type Assertion NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_head.
- NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_assertion description "[We identified a GNAS mutation in a patient with a severe form of Albright hereditary osteodystrophy and pseudohypoparathyroidism type 1a with phocomelia and performed PGD on embryos derived by in vitro fertilization in order to deliver an unaffected infant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_provenance.
- NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_assertion evidence source_evidence_literature NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_provenance.
- NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_assertion SIO_000772 21550946 NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_provenance.
- NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_assertion wasDerivedFrom befree-2016 NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_provenance.
- NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_assertion wasGeneratedBy ECO_0000203 NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_provenance.