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- source_evidence_literature type ECO_0000212 NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_provenance.
- 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.
- befree-2016 importedOn "2016-02-19" NP991633.RAUAYgP-ukUYAxFvjh-UTwOmAbfDzCR2jVJHMqL2uAwGU130_provenance.