Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP708011.RAXcjQVz3pmxERQfKkXO0BOYDm_4uyTHUrw-mq7QXBsQM130_assertion> ?p ?o ?g. }
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- NP708011.RAXcjQVz3pmxERQfKkXO0BOYDm_4uyTHUrw-mq7QXBsQM130_assertion type Assertion NP708011.RAXcjQVz3pmxERQfKkXO0BOYDm_4uyTHUrw-mq7QXBsQM130_head.
- NP708011.RAXcjQVz3pmxERQfKkXO0BOYDm_4uyTHUrw-mq7QXBsQM130_assertion wasGeneratedBy ECO_0000203 NP708011.RAXcjQVz3pmxERQfKkXO0BOYDm_4uyTHUrw-mq7QXBsQM130_provenance.
- NP708011.RAXcjQVz3pmxERQfKkXO0BOYDm_4uyTHUrw-mq7QXBsQM130_assertion wasDerivedFrom befree-20150227 NP708011.RAXcjQVz3pmxERQfKkXO0BOYDm_4uyTHUrw-mq7QXBsQM130_provenance.
- NP708011.RAXcjQVz3pmxERQfKkXO0BOYDm_4uyTHUrw-mq7QXBsQM130_assertion SIO_000772 16892407 NP708011.RAXcjQVz3pmxERQfKkXO0BOYDm_4uyTHUrw-mq7QXBsQM130_provenance.
- NP708011.RAXcjQVz3pmxERQfKkXO0BOYDm_4uyTHUrw-mq7QXBsQM130_assertion evidence source_evidence_literature NP708011.RAXcjQVz3pmxERQfKkXO0BOYDm_4uyTHUrw-mq7QXBsQM130_provenance.
- NP708011.RAXcjQVz3pmxERQfKkXO0BOYDm_4uyTHUrw-mq7QXBsQM130_assertion description "[We report a heterozygous SOX2 gene mutation underlying the syndrome of anophthalmia/microphthalmia-esophageal atresia and demonstrate that this entity can be associated to considerable clinical variability as shown by the discordant ocular phenotype observed in monozygotic twin brothers carrying an SOX2 deletion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP708011.RAXcjQVz3pmxERQfKkXO0BOYDm_4uyTHUrw-mq7QXBsQM130_provenance.