Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1211405.RAdS8EIDt8VJ9Ui_wqYBc9FwtXIsF4wmUJ3mdXG67-dMw130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1211405.RAdS8EIDt8VJ9Ui_wqYBc9FwtXIsF4wmUJ3mdXG67-dMw130_assertion type Assertion NP1211405.RAdS8EIDt8VJ9Ui_wqYBc9FwtXIsF4wmUJ3mdXG67-dMw130_head.
- NP1211405.RAdS8EIDt8VJ9Ui_wqYBc9FwtXIsF4wmUJ3mdXG67-dMw130_assertion description "[Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1211405.RAdS8EIDt8VJ9Ui_wqYBc9FwtXIsF4wmUJ3mdXG67-dMw130_provenance.
- NP1211405.RAdS8EIDt8VJ9Ui_wqYBc9FwtXIsF4wmUJ3mdXG67-dMw130_assertion evidence source_evidence_literature NP1211405.RAdS8EIDt8VJ9Ui_wqYBc9FwtXIsF4wmUJ3mdXG67-dMw130_provenance.
- NP1211405.RAdS8EIDt8VJ9Ui_wqYBc9FwtXIsF4wmUJ3mdXG67-dMw130_assertion SIO_000772 25130867 NP1211405.RAdS8EIDt8VJ9Ui_wqYBc9FwtXIsF4wmUJ3mdXG67-dMw130_provenance.
- NP1211405.RAdS8EIDt8VJ9Ui_wqYBc9FwtXIsF4wmUJ3mdXG67-dMw130_assertion wasDerivedFrom befree-2016 NP1211405.RAdS8EIDt8VJ9Ui_wqYBc9FwtXIsF4wmUJ3mdXG67-dMw130_provenance.
- NP1211405.RAdS8EIDt8VJ9Ui_wqYBc9FwtXIsF4wmUJ3mdXG67-dMw130_assertion wasGeneratedBy ECO_0000203 NP1211405.RAdS8EIDt8VJ9Ui_wqYBc9FwtXIsF4wmUJ3mdXG67-dMw130_provenance.