Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP790911.RAEeuk5qpcptnGdGVdUTtseA63h-4NHbedrYKuvyXRKug130_assertion> ?p ?o ?g. }
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- NP790911.RAEeuk5qpcptnGdGVdUTtseA63h-4NHbedrYKuvyXRKug130_assertion type Assertion NP790911.RAEeuk5qpcptnGdGVdUTtseA63h-4NHbedrYKuvyXRKug130_head.
- NP790911.RAEeuk5qpcptnGdGVdUTtseA63h-4NHbedrYKuvyXRKug130_assertion description "[The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP790911.RAEeuk5qpcptnGdGVdUTtseA63h-4NHbedrYKuvyXRKug130_provenance.
- NP790911.RAEeuk5qpcptnGdGVdUTtseA63h-4NHbedrYKuvyXRKug130_assertion evidence source_evidence_literature NP790911.RAEeuk5qpcptnGdGVdUTtseA63h-4NHbedrYKuvyXRKug130_provenance.
- NP790911.RAEeuk5qpcptnGdGVdUTtseA63h-4NHbedrYKuvyXRKug130_assertion SIO_000772 12398836 NP790911.RAEeuk5qpcptnGdGVdUTtseA63h-4NHbedrYKuvyXRKug130_provenance.
- NP790911.RAEeuk5qpcptnGdGVdUTtseA63h-4NHbedrYKuvyXRKug130_assertion wasDerivedFrom befree-20150227 NP790911.RAEeuk5qpcptnGdGVdUTtseA63h-4NHbedrYKuvyXRKug130_provenance.
- NP790911.RAEeuk5qpcptnGdGVdUTtseA63h-4NHbedrYKuvyXRKug130_assertion wasGeneratedBy ECO_0000203 NP790911.RAEeuk5qpcptnGdGVdUTtseA63h-4NHbedrYKuvyXRKug130_provenance.