Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP84308.RAJeHHu6va1xacv3vWmzndTrmsaMR-7HULyztQbcWPX2g130_assertion> ?p ?o ?g. }
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- NP84308.RAJeHHu6va1xacv3vWmzndTrmsaMR-7HULyztQbcWPX2g130_assertion type Assertion NP84308.RAJeHHu6va1xacv3vWmzndTrmsaMR-7HULyztQbcWPX2g130_head.
- NP84308.RAJeHHu6va1xacv3vWmzndTrmsaMR-7HULyztQbcWPX2g130_assertion description "[Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP84308.RAJeHHu6va1xacv3vWmzndTrmsaMR-7HULyztQbcWPX2g130_provenance.
- NP84308.RAJeHHu6va1xacv3vWmzndTrmsaMR-7HULyztQbcWPX2g130_assertion evidence source_evidence_literature NP84308.RAJeHHu6va1xacv3vWmzndTrmsaMR-7HULyztQbcWPX2g130_provenance.
- NP84308.RAJeHHu6va1xacv3vWmzndTrmsaMR-7HULyztQbcWPX2g130_assertion SIO_000772 15017103 NP84308.RAJeHHu6va1xacv3vWmzndTrmsaMR-7HULyztQbcWPX2g130_provenance.
- NP84308.RAJeHHu6va1xacv3vWmzndTrmsaMR-7HULyztQbcWPX2g130_assertion wasDerivedFrom gad-20150221 NP84308.RAJeHHu6va1xacv3vWmzndTrmsaMR-7HULyztQbcWPX2g130_provenance.
- NP84308.RAJeHHu6va1xacv3vWmzndTrmsaMR-7HULyztQbcWPX2g130_assertion wasGeneratedBy ECO_0000203 NP84308.RAJeHHu6va1xacv3vWmzndTrmsaMR-7HULyztQbcWPX2g130_provenance.