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- NP881955.RABfNnMUsqW_WXssfwctDQouMbj8ekmUBdDjhyDUcg_1I130_assertion type Assertion NP881955.RABfNnMUsqW_WXssfwctDQouMbj8ekmUBdDjhyDUcg_1I130_head.
- NP881955.RABfNnMUsqW_WXssfwctDQouMbj8ekmUBdDjhyDUcg_1I130_assertion wasGeneratedBy ECO_0000203 NP881955.RABfNnMUsqW_WXssfwctDQouMbj8ekmUBdDjhyDUcg_1I130_provenance.
- NP881955.RABfNnMUsqW_WXssfwctDQouMbj8ekmUBdDjhyDUcg_1I130_assertion wasDerivedFrom befree-20150227 NP881955.RABfNnMUsqW_WXssfwctDQouMbj8ekmUBdDjhyDUcg_1I130_provenance.
- NP881955.RABfNnMUsqW_WXssfwctDQouMbj8ekmUBdDjhyDUcg_1I130_assertion SIO_000772 22883145 NP881955.RABfNnMUsqW_WXssfwctDQouMbj8ekmUBdDjhyDUcg_1I130_provenance.
- NP881955.RABfNnMUsqW_WXssfwctDQouMbj8ekmUBdDjhyDUcg_1I130_assertion evidence source_evidence_literature NP881955.RABfNnMUsqW_WXssfwctDQouMbj8ekmUBdDjhyDUcg_1I130_provenance.
- NP881955.RABfNnMUsqW_WXssfwctDQouMbj8ekmUBdDjhyDUcg_1I130_assertion description "[Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP881955.RABfNnMUsqW_WXssfwctDQouMbj8ekmUBdDjhyDUcg_1I130_provenance.