Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP592198.RAlJ2zL5FA6RkXaZh7lxRW7ZdDHe2f_Z1L7NHnTOCPwZM130_assertion> ?p ?o ?g. }
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- NP592198.RAlJ2zL5FA6RkXaZh7lxRW7ZdDHe2f_Z1L7NHnTOCPwZM130_assertion type Assertion NP592198.RAlJ2zL5FA6RkXaZh7lxRW7ZdDHe2f_Z1L7NHnTOCPwZM130_head.
- NP592198.RAlJ2zL5FA6RkXaZh7lxRW7ZdDHe2f_Z1L7NHnTOCPwZM130_assertion wasGeneratedBy ECO_0000203 NP592198.RAlJ2zL5FA6RkXaZh7lxRW7ZdDHe2f_Z1L7NHnTOCPwZM130_provenance.
- NP592198.RAlJ2zL5FA6RkXaZh7lxRW7ZdDHe2f_Z1L7NHnTOCPwZM130_assertion wasDerivedFrom befree-2016 NP592198.RAlJ2zL5FA6RkXaZh7lxRW7ZdDHe2f_Z1L7NHnTOCPwZM130_provenance.
- NP592198.RAlJ2zL5FA6RkXaZh7lxRW7ZdDHe2f_Z1L7NHnTOCPwZM130_assertion SIO_000772 17276711 NP592198.RAlJ2zL5FA6RkXaZh7lxRW7ZdDHe2f_Z1L7NHnTOCPwZM130_provenance.
- NP592198.RAlJ2zL5FA6RkXaZh7lxRW7ZdDHe2f_Z1L7NHnTOCPwZM130_assertion evidence source_evidence_literature NP592198.RAlJ2zL5FA6RkXaZh7lxRW7ZdDHe2f_Z1L7NHnTOCPwZM130_provenance.
- NP592198.RAlJ2zL5FA6RkXaZh7lxRW7ZdDHe2f_Z1L7NHnTOCPwZM130_assertion description "[Rett syndrome (RS) is an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2 (Xq28) and characterized by normal development until 6-12 months of age, followed by regression with loss of acquired skills, gradual onset of microcephaly, stereotypic hand movements and psychomotor delay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP592198.RAlJ2zL5FA6RkXaZh7lxRW7ZdDHe2f_Z1L7NHnTOCPwZM130_provenance.