Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP575017.RALxXQcKpUXS_YsItkZ30M8x7Z-VrBAaQi4pf41qKCyw4130_assertion> ?p ?o ?g. }
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- NP575017.RALxXQcKpUXS_YsItkZ30M8x7Z-VrBAaQi4pf41qKCyw4130_assertion type Assertion NP575017.RALxXQcKpUXS_YsItkZ30M8x7Z-VrBAaQi4pf41qKCyw4130_head.
- NP575017.RALxXQcKpUXS_YsItkZ30M8x7Z-VrBAaQi4pf41qKCyw4130_assertion description "[Mutations of the aprataxin (APTX) gene cause early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), also called ataxia with oculomotor apraxia type 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP575017.RALxXQcKpUXS_YsItkZ30M8x7Z-VrBAaQi4pf41qKCyw4130_provenance.
- NP575017.RALxXQcKpUXS_YsItkZ30M8x7Z-VrBAaQi4pf41qKCyw4130_assertion evidence source_evidence_literature NP575017.RALxXQcKpUXS_YsItkZ30M8x7Z-VrBAaQi4pf41qKCyw4130_provenance.
- NP575017.RALxXQcKpUXS_YsItkZ30M8x7Z-VrBAaQi4pf41qKCyw4130_assertion SIO_000772 17049295 NP575017.RALxXQcKpUXS_YsItkZ30M8x7Z-VrBAaQi4pf41qKCyw4130_provenance.
- NP575017.RALxXQcKpUXS_YsItkZ30M8x7Z-VrBAaQi4pf41qKCyw4130_assertion wasDerivedFrom befree-2016 NP575017.RALxXQcKpUXS_YsItkZ30M8x7Z-VrBAaQi4pf41qKCyw4130_provenance.
- NP575017.RALxXQcKpUXS_YsItkZ30M8x7Z-VrBAaQi4pf41qKCyw4130_assertion wasGeneratedBy ECO_0000203 NP575017.RALxXQcKpUXS_YsItkZ30M8x7Z-VrBAaQi4pf41qKCyw4130_provenance.