Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_assertion type Assertion NP283899.RA4Y2JPuwXRcx0lV7dnuvu3VfPmN0ST8qUYhae-43b6fg130_head.
- 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.