Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP926078.RAx08eJoRplxqFOYqbT_d_cDo62c26P0KTBk7Nu0d0b_I130_assertion> ?p ?o ?g. }
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- NP926078.RAx08eJoRplxqFOYqbT_d_cDo62c26P0KTBk7Nu0d0b_I130_assertion type Assertion NP926078.RAx08eJoRplxqFOYqbT_d_cDo62c26P0KTBk7Nu0d0b_I130_head.
- NP926078.RAx08eJoRplxqFOYqbT_d_cDo62c26P0KTBk7Nu0d0b_I130_assertion wasGeneratedBy ECO_0000203 NP926078.RAx08eJoRplxqFOYqbT_d_cDo62c26P0KTBk7Nu0d0b_I130_provenance.
- NP926078.RAx08eJoRplxqFOYqbT_d_cDo62c26P0KTBk7Nu0d0b_I130_assertion wasDerivedFrom befree-2016 NP926078.RAx08eJoRplxqFOYqbT_d_cDo62c26P0KTBk7Nu0d0b_I130_provenance.
- NP926078.RAx08eJoRplxqFOYqbT_d_cDo62c26P0KTBk7Nu0d0b_I130_assertion SIO_000772 21944047 NP926078.RAx08eJoRplxqFOYqbT_d_cDo62c26P0KTBk7Nu0d0b_I130_provenance.
- NP926078.RAx08eJoRplxqFOYqbT_d_cDo62c26P0KTBk7Nu0d0b_I130_assertion evidence source_evidence_literature NP926078.RAx08eJoRplxqFOYqbT_d_cDo62c26P0KTBk7Nu0d0b_I130_provenance.
- NP926078.RAx08eJoRplxqFOYqbT_d_cDo62c26P0KTBk7Nu0d0b_I130_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." NP926078.RAx08eJoRplxqFOYqbT_d_cDo62c26P0KTBk7Nu0d0b_I130_provenance.