Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP364475.RAEzj7YylTwT5lzeYgbkYl1ITNsPPm9Ep_20JeVuqnU3Q130_assertion> ?p ?o ?g. }
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- NP364475.RAEzj7YylTwT5lzeYgbkYl1ITNsPPm9Ep_20JeVuqnU3Q130_assertion type Assertion NP364475.RAEzj7YylTwT5lzeYgbkYl1ITNsPPm9Ep_20JeVuqnU3Q130_head.
- NP364475.RAEzj7YylTwT5lzeYgbkYl1ITNsPPm9Ep_20JeVuqnU3Q130_assertion description "[We report in an affected man and his mother an adult-onset form of childhood ataxia with central nervous system hypomyelination/vanishing white matter disease-like disorder with no mutations in the EIF2B genes and normal guanine nucleotide exchange factor eIF2B activity, suggesting a new dominant inheritance of this syndrome that may involve other genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP364475.RAEzj7YylTwT5lzeYgbkYl1ITNsPPm9Ep_20JeVuqnU3Q130_provenance.
- NP364475.RAEzj7YylTwT5lzeYgbkYl1ITNsPPm9Ep_20JeVuqnU3Q130_assertion evidence source_evidence_literature NP364475.RAEzj7YylTwT5lzeYgbkYl1ITNsPPm9Ep_20JeVuqnU3Q130_provenance.
- NP364475.RAEzj7YylTwT5lzeYgbkYl1ITNsPPm9Ep_20JeVuqnU3Q130_assertion SIO_000772 16047349 NP364475.RAEzj7YylTwT5lzeYgbkYl1ITNsPPm9Ep_20JeVuqnU3Q130_provenance.
- NP364475.RAEzj7YylTwT5lzeYgbkYl1ITNsPPm9Ep_20JeVuqnU3Q130_assertion wasDerivedFrom befree-20140225 NP364475.RAEzj7YylTwT5lzeYgbkYl1ITNsPPm9Ep_20JeVuqnU3Q130_provenance.
- NP364475.RAEzj7YylTwT5lzeYgbkYl1ITNsPPm9Ep_20JeVuqnU3Q130_assertion wasGeneratedBy ECO_0000203 NP364475.RAEzj7YylTwT5lzeYgbkYl1ITNsPPm9Ep_20JeVuqnU3Q130_provenance.