Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP926079.RAPTH7gwa1S008nqBU-TLtRbyp8V7wJuqxpBqAwT7nnOE130_assertion> ?p ?o ?g. }
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- NP926079.RAPTH7gwa1S008nqBU-TLtRbyp8V7wJuqxpBqAwT7nnOE130_assertion type Assertion NP926079.RAPTH7gwa1S008nqBU-TLtRbyp8V7wJuqxpBqAwT7nnOE130_head.
- NP926079.RAPTH7gwa1S008nqBU-TLtRbyp8V7wJuqxpBqAwT7nnOE130_assertion wasGeneratedBy ECO_0000203 NP926079.RAPTH7gwa1S008nqBU-TLtRbyp8V7wJuqxpBqAwT7nnOE130_provenance.
- NP926079.RAPTH7gwa1S008nqBU-TLtRbyp8V7wJuqxpBqAwT7nnOE130_assertion wasDerivedFrom befree-2016 NP926079.RAPTH7gwa1S008nqBU-TLtRbyp8V7wJuqxpBqAwT7nnOE130_provenance.
- NP926079.RAPTH7gwa1S008nqBU-TLtRbyp8V7wJuqxpBqAwT7nnOE130_assertion SIO_000772 21944047 NP926079.RAPTH7gwa1S008nqBU-TLtRbyp8V7wJuqxpBqAwT7nnOE130_provenance.
- NP926079.RAPTH7gwa1S008nqBU-TLtRbyp8V7wJuqxpBqAwT7nnOE130_assertion evidence source_evidence_literature NP926079.RAPTH7gwa1S008nqBU-TLtRbyp8V7wJuqxpBqAwT7nnOE130_provenance.
- NP926079.RAPTH7gwa1S008nqBU-TLtRbyp8V7wJuqxpBqAwT7nnOE130_assertion description "[Using whole-genome homozygosity mapping, candidate-gene analysis and deep sequencing, we have identified loss-of-function mutations in the gene for protease inhibitor cystatin A (CSTA) as the underlying genetic cause of exfoliative ichthyosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP926079.RAPTH7gwa1S008nqBU-TLtRbyp8V7wJuqxpBqAwT7nnOE130_provenance.