Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP852174.RA4rqqnryyM5hfCtE0zjfhHY28Geo7G8M6HMOk-c_o4TA130_assertion> ?p ?o ?g. }
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- NP852174.RA4rqqnryyM5hfCtE0zjfhHY28Geo7G8M6HMOk-c_o4TA130_assertion type Assertion NP852174.RA4rqqnryyM5hfCtE0zjfhHY28Geo7G8M6HMOk-c_o4TA130_head.
- NP852174.RA4rqqnryyM5hfCtE0zjfhHY28Geo7G8M6HMOk-c_o4TA130_assertion description "[We identified a novel homozygous insertion in SNAP29 (c.486insA) in two sibs presenting with ichthyosis and dysgenesis of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP852174.RA4rqqnryyM5hfCtE0zjfhHY28Geo7G8M6HMOk-c_o4TA130_provenance.
- NP852174.RA4rqqnryyM5hfCtE0zjfhHY28Geo7G8M6HMOk-c_o4TA130_assertion evidence source_evidence_literature NP852174.RA4rqqnryyM5hfCtE0zjfhHY28Geo7G8M6HMOk-c_o4TA130_provenance.
- NP852174.RA4rqqnryyM5hfCtE0zjfhHY28Geo7G8M6HMOk-c_o4TA130_assertion SIO_000772 21073448 NP852174.RA4rqqnryyM5hfCtE0zjfhHY28Geo7G8M6HMOk-c_o4TA130_provenance.
- NP852174.RA4rqqnryyM5hfCtE0zjfhHY28Geo7G8M6HMOk-c_o4TA130_assertion wasDerivedFrom befree-2016 NP852174.RA4rqqnryyM5hfCtE0zjfhHY28Geo7G8M6HMOk-c_o4TA130_provenance.
- NP852174.RA4rqqnryyM5hfCtE0zjfhHY28Geo7G8M6HMOk-c_o4TA130_assertion wasGeneratedBy ECO_0000203 NP852174.RA4rqqnryyM5hfCtE0zjfhHY28Geo7G8M6HMOk-c_o4TA130_provenance.