Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP663227.RA_lRGszzhlmx-AX5Ys9Ha9yJZSN3x5v9XPV8aX1KgNiQ130_assertion> ?p ?o ?g. }
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- NP663227.RA_lRGszzhlmx-AX5Ys9Ha9yJZSN3x5v9XPV8aX1KgNiQ130_assertion type Assertion NP663227.RA_lRGszzhlmx-AX5Ys9Ha9yJZSN3x5v9XPV8aX1KgNiQ130_head.
- NP663227.RA_lRGszzhlmx-AX5Ys9Ha9yJZSN3x5v9XPV8aX1KgNiQ130_assertion description "[The paternal COL4A5 mutation seems to account for the complete phenotype of ATS in the father and the maternal mutation in MYH9 for the inner ear deafness in the mother.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP663227.RA_lRGszzhlmx-AX5Ys9Ha9yJZSN3x5v9XPV8aX1KgNiQ130_provenance.
- NP663227.RA_lRGszzhlmx-AX5Ys9Ha9yJZSN3x5v9XPV8aX1KgNiQ130_assertion evidence source_evidence_literature NP663227.RA_lRGszzhlmx-AX5Ys9Ha9yJZSN3x5v9XPV8aX1KgNiQ130_provenance.
- NP663227.RA_lRGszzhlmx-AX5Ys9Ha9yJZSN3x5v9XPV8aX1KgNiQ130_assertion SIO_000772 23144074 NP663227.RA_lRGszzhlmx-AX5Ys9Ha9yJZSN3x5v9XPV8aX1KgNiQ130_provenance.
- NP663227.RA_lRGszzhlmx-AX5Ys9Ha9yJZSN3x5v9XPV8aX1KgNiQ130_assertion wasDerivedFrom befree-20140225 NP663227.RA_lRGszzhlmx-AX5Ys9Ha9yJZSN3x5v9XPV8aX1KgNiQ130_provenance.
- NP663227.RA_lRGszzhlmx-AX5Ys9Ha9yJZSN3x5v9XPV8aX1KgNiQ130_assertion wasGeneratedBy ECO_0000203 NP663227.RA_lRGszzhlmx-AX5Ys9Ha9yJZSN3x5v9XPV8aX1KgNiQ130_provenance.