Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP278919.RATnLXGZ8Fm9pysreyfwG94NZ5KmjAPhEoe0uJdVw38EQ130_assertion> ?p ?o ?g. }
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- NP278919.RATnLXGZ8Fm9pysreyfwG94NZ5KmjAPhEoe0uJdVw38EQ130_assertion type Assertion NP278919.RATnLXGZ8Fm9pysreyfwG94NZ5KmjAPhEoe0uJdVw38EQ130_head.
- NP278919.RATnLXGZ8Fm9pysreyfwG94NZ5KmjAPhEoe0uJdVw38EQ130_assertion description "[Most cases of Friedreich ataxia (FRDA) are due to expansions of a GAA trinucleotide repeat sequence in the FRDA gene coding for frataxin, a protein of poorly understood function which may regulate mitochondrial iron transport.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP278919.RATnLXGZ8Fm9pysreyfwG94NZ5KmjAPhEoe0uJdVw38EQ130_provenance.
- NP278919.RATnLXGZ8Fm9pysreyfwG94NZ5KmjAPhEoe0uJdVw38EQ130_assertion evidence source_evidence_literature NP278919.RATnLXGZ8Fm9pysreyfwG94NZ5KmjAPhEoe0uJdVw38EQ130_provenance.
- NP278919.RATnLXGZ8Fm9pysreyfwG94NZ5KmjAPhEoe0uJdVw38EQ130_assertion SIO_000772 10732799 NP278919.RATnLXGZ8Fm9pysreyfwG94NZ5KmjAPhEoe0uJdVw38EQ130_provenance.
- NP278919.RATnLXGZ8Fm9pysreyfwG94NZ5KmjAPhEoe0uJdVw38EQ130_assertion wasDerivedFrom befree-2016 NP278919.RATnLXGZ8Fm9pysreyfwG94NZ5KmjAPhEoe0uJdVw38EQ130_provenance.
- NP278919.RATnLXGZ8Fm9pysreyfwG94NZ5KmjAPhEoe0uJdVw38EQ130_assertion wasGeneratedBy ECO_0000203 NP278919.RATnLXGZ8Fm9pysreyfwG94NZ5KmjAPhEoe0uJdVw38EQ130_provenance.