Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1215290.RAIyl-0bdU5k1Gu89ZgHd1hBBTaq9yOUD_yQhP8iPqZCM130_assertion> ?p ?o ?g. }
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- NP1215290.RAIyl-0bdU5k1Gu89ZgHd1hBBTaq9yOUD_yQhP8iPqZCM130_assertion type Assertion NP1215290.RAIyl-0bdU5k1Gu89ZgHd1hBBTaq9yOUD_yQhP8iPqZCM130_head.
- NP1215290.RAIyl-0bdU5k1Gu89ZgHd1hBBTaq9yOUD_yQhP8iPqZCM130_assertion description "[Our clinical findings are consistent with recessive ECEL1 mutations causing variably penetrant orbital dysinnervation phenotypes (ptosis and/or complex strabismus with abnormal synkinesis) in the context of arthrogryposisis, that is, with the ECEL1-related ophthalmic phenotype being a form of CCDD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1215290.RAIyl-0bdU5k1Gu89ZgHd1hBBTaq9yOUD_yQhP8iPqZCM130_provenance.
- NP1215290.RAIyl-0bdU5k1Gu89ZgHd1hBBTaq9yOUD_yQhP8iPqZCM130_assertion evidence source_evidence_literature NP1215290.RAIyl-0bdU5k1Gu89ZgHd1hBBTaq9yOUD_yQhP8iPqZCM130_provenance.
- NP1215290.RAIyl-0bdU5k1Gu89ZgHd1hBBTaq9yOUD_yQhP8iPqZCM130_assertion SIO_000772 25173900 NP1215290.RAIyl-0bdU5k1Gu89ZgHd1hBBTaq9yOUD_yQhP8iPqZCM130_provenance.
- NP1215290.RAIyl-0bdU5k1Gu89ZgHd1hBBTaq9yOUD_yQhP8iPqZCM130_assertion wasDerivedFrom befree-2016 NP1215290.RAIyl-0bdU5k1Gu89ZgHd1hBBTaq9yOUD_yQhP8iPqZCM130_provenance.
- NP1215290.RAIyl-0bdU5k1Gu89ZgHd1hBBTaq9yOUD_yQhP8iPqZCM130_assertion wasGeneratedBy ECO_0000203 NP1215290.RAIyl-0bdU5k1Gu89ZgHd1hBBTaq9yOUD_yQhP8iPqZCM130_provenance.