Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- NP1215295.RAZUm4KC2K8lmw_V9oQmKrmeMDvEGVA1T9T5EQ9k1mtNs130_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." NP1215295.RAZUm4KC2K8lmw_V9oQmKrmeMDvEGVA1T9T5EQ9k1mtNs130_provenance.
- NP1215298.RAZDcugIeCcslLY5rWJZ0oe9YMJoaU7DEophPuLQUXEok130_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." NP1215298.RAZDcugIeCcslLY5rWJZ0oe9YMJoaU7DEophPuLQUXEok130_provenance.
- 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.