Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_assertion type Assertion NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_head.
- NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_assertion description "[Two heterozygous APTX sequence variants (p.L248M and p.D185E) were found in six families with ataxic phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_provenance.
- NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_assertion evidence source_evidence_literature NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_provenance.
- NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_assertion SIO_000772 21465257 NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_provenance.
- NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_assertion wasDerivedFrom befree-2016 NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_provenance.
- NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_assertion wasGeneratedBy ECO_0000203 NP884594.RAela1ZfNK8lt80z1AF59HwOvx0rtixzQnyOqHBNaY5wg130_provenance.