Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP820384.RAfv9iNn7d0PVB5Fhg38wFTUagS0fkoQ_6CeN7bLEEG4M130_assertion> ?p ?o ?g. }
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- NP820384.RAfv9iNn7d0PVB5Fhg38wFTUagS0fkoQ_6CeN7bLEEG4M130_assertion type Assertion NP820384.RAfv9iNn7d0PVB5Fhg38wFTUagS0fkoQ_6CeN7bLEEG4M130_head.
- NP820384.RAfv9iNn7d0PVB5Fhg38wFTUagS0fkoQ_6CeN7bLEEG4M130_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." NP820384.RAfv9iNn7d0PVB5Fhg38wFTUagS0fkoQ_6CeN7bLEEG4M130_provenance.
- NP820384.RAfv9iNn7d0PVB5Fhg38wFTUagS0fkoQ_6CeN7bLEEG4M130_assertion evidence source_evidence_literature NP820384.RAfv9iNn7d0PVB5Fhg38wFTUagS0fkoQ_6CeN7bLEEG4M130_provenance.
- NP820384.RAfv9iNn7d0PVB5Fhg38wFTUagS0fkoQ_6CeN7bLEEG4M130_assertion SIO_000772 21073448 NP820384.RAfv9iNn7d0PVB5Fhg38wFTUagS0fkoQ_6CeN7bLEEG4M130_provenance.
- NP820384.RAfv9iNn7d0PVB5Fhg38wFTUagS0fkoQ_6CeN7bLEEG4M130_assertion wasDerivedFrom befree-20150227 NP820384.RAfv9iNn7d0PVB5Fhg38wFTUagS0fkoQ_6CeN7bLEEG4M130_provenance.
- NP820384.RAfv9iNn7d0PVB5Fhg38wFTUagS0fkoQ_6CeN7bLEEG4M130_assertion wasGeneratedBy ECO_0000203 NP820384.RAfv9iNn7d0PVB5Fhg38wFTUagS0fkoQ_6CeN7bLEEG4M130_provenance.