Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP203634.RAvVmGU2B9C4Kj_5wnem_PbcQ_HawrAXrKb6UNqtTnpBA130_assertion> ?p ?o ?g. }
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- NP203634.RAvVmGU2B9C4Kj_5wnem_PbcQ_HawrAXrKb6UNqtTnpBA130_assertion type Assertion NP203634.RAvVmGU2B9C4Kj_5wnem_PbcQ_HawrAXrKb6UNqtTnpBA130_head.
- NP203634.RAvVmGU2B9C4Kj_5wnem_PbcQ_HawrAXrKb6UNqtTnpBA130_assertion description "[Three novel CTSC missense mutations found in 21 Papillon-Lefevre syndrome families, and a complete loss of CTSC function appears to be necessary for the manifestation of this phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP203634.RAvVmGU2B9C4Kj_5wnem_PbcQ_HawrAXrKb6UNqtTnpBA130_provenance.
- NP203634.RAvVmGU2B9C4Kj_5wnem_PbcQ_HawrAXrKb6UNqtTnpBA130_assertion evidence source_evidence_literature NP203634.RAvVmGU2B9C4Kj_5wnem_PbcQ_HawrAXrKb6UNqtTnpBA130_provenance.
- NP203634.RAvVmGU2B9C4Kj_5wnem_PbcQ_HawrAXrKb6UNqtTnpBA130_assertion SIO_000772 14974080 NP203634.RAvVmGU2B9C4Kj_5wnem_PbcQ_HawrAXrKb6UNqtTnpBA130_provenance.
- NP203634.RAvVmGU2B9C4Kj_5wnem_PbcQ_HawrAXrKb6UNqtTnpBA130_assertion wasDerivedFrom lhgdn-20090331 NP203634.RAvVmGU2B9C4Kj_5wnem_PbcQ_HawrAXrKb6UNqtTnpBA130_provenance.
- NP203634.RAvVmGU2B9C4Kj_5wnem_PbcQ_HawrAXrKb6UNqtTnpBA130_assertion wasGeneratedBy ECO_0000203 NP203634.RAvVmGU2B9C4Kj_5wnem_PbcQ_HawrAXrKb6UNqtTnpBA130_provenance.