Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_provenance.
- NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_assertion description "[Through linkage analysis, homozygosity mapping, and exome sequencing in three unrelated SMA-PME-affected families, we identified a homozygous missense mutation (c.125C>T [p.Thr42Met]) in exon 2 of ASAH1 in the affected children of two families and the same mutation associated with a deletion of the whole gene in the third family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_provenance.
- NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_assertion evidence source_evidence_literature NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_provenance.
- NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_assertion SIO_000772 22703880 NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_provenance.
- NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_assertion wasDerivedFrom befree-20140225 NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_provenance.
- NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_assertion wasGeneratedBy ECO_0000203 NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_provenance.