Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP333781.RAOvFhP0HyAnwINYyczr8VyIgOKBqZX8sIpj7Zvpn0JKE130_assertion> ?p ?o ?g. }
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- NP333781.RAOvFhP0HyAnwINYyczr8VyIgOKBqZX8sIpj7Zvpn0JKE130_assertion type Assertion NP333781.RAOvFhP0HyAnwINYyczr8VyIgOKBqZX8sIpj7Zvpn0JKE130_head.
- NP333781.RAOvFhP0HyAnwINYyczr8VyIgOKBqZX8sIpj7Zvpn0JKE130_assertion wasGeneratedBy ECO_0000203 NP333781.RAOvFhP0HyAnwINYyczr8VyIgOKBqZX8sIpj7Zvpn0JKE130_provenance.
- NP333781.RAOvFhP0HyAnwINYyczr8VyIgOKBqZX8sIpj7Zvpn0JKE130_assertion wasDerivedFrom befree-20150227 NP333781.RAOvFhP0HyAnwINYyczr8VyIgOKBqZX8sIpj7Zvpn0JKE130_provenance.
- NP333781.RAOvFhP0HyAnwINYyczr8VyIgOKBqZX8sIpj7Zvpn0JKE130_assertion SIO_000772 21944047 NP333781.RAOvFhP0HyAnwINYyczr8VyIgOKBqZX8sIpj7Zvpn0JKE130_provenance.
- NP333781.RAOvFhP0HyAnwINYyczr8VyIgOKBqZX8sIpj7Zvpn0JKE130_assertion evidence source_evidence_literature NP333781.RAOvFhP0HyAnwINYyczr8VyIgOKBqZX8sIpj7Zvpn0JKE130_provenance.
- NP333781.RAOvFhP0HyAnwINYyczr8VyIgOKBqZX8sIpj7Zvpn0JKE130_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." NP333781.RAOvFhP0HyAnwINYyczr8VyIgOKBqZX8sIpj7Zvpn0JKE130_provenance.