Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_assertion type Assertion NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_head.
- NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_assertion description "[As part of an established exome sequencing program to identify disease genes in familial ALS, we identified a novel missense UBQLN2 mutation (c.1460C>T, p.T487I) in 2 apparently unrelated multigenerational ALS families with no evidence of frontotemporal dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_provenance.
- NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_assertion evidence source_evidence_literature NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_provenance.
- NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_assertion SIO_000772 22717235 NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_provenance.
- NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_assertion wasDerivedFrom befree-2016 NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_provenance.
- NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_assertion wasGeneratedBy ECO_0000203 NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_provenance.