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- NP322173.RAcT8JE4k50PlGIatfXdQFmgvnmjy-hrLJD0boCwOQ3Iw130_assertion type Assertion NP322173.RAcT8JE4k50PlGIatfXdQFmgvnmjy-hrLJD0boCwOQ3Iw130_head.
- NP322173.RAcT8JE4k50PlGIatfXdQFmgvnmjy-hrLJD0boCwOQ3Iw130_assertion wasGeneratedBy ECO_0000203 NP322173.RAcT8JE4k50PlGIatfXdQFmgvnmjy-hrLJD0boCwOQ3Iw130_provenance.
- NP322173.RAcT8JE4k50PlGIatfXdQFmgvnmjy-hrLJD0boCwOQ3Iw130_assertion wasDerivedFrom befree-20140225 NP322173.RAcT8JE4k50PlGIatfXdQFmgvnmjy-hrLJD0boCwOQ3Iw130_provenance.
- NP322173.RAcT8JE4k50PlGIatfXdQFmgvnmjy-hrLJD0boCwOQ3Iw130_assertion SIO_000772 16892407 NP322173.RAcT8JE4k50PlGIatfXdQFmgvnmjy-hrLJD0boCwOQ3Iw130_provenance.
- NP322173.RAcT8JE4k50PlGIatfXdQFmgvnmjy-hrLJD0boCwOQ3Iw130_assertion evidence source_evidence_literature NP322173.RAcT8JE4k50PlGIatfXdQFmgvnmjy-hrLJD0boCwOQ3Iw130_provenance.
- NP322173.RAcT8JE4k50PlGIatfXdQFmgvnmjy-hrLJD0boCwOQ3Iw130_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." NP322173.RAcT8JE4k50PlGIatfXdQFmgvnmjy-hrLJD0boCwOQ3Iw130_provenance.