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- source_evidence_literature type ECO_0000212 NP1263783.RAS9JKA_o-P-Kxlej7f5ClNMcc5WOQOFsFqzUwIEcNIN8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1263783.RAS9JKA_o-P-Kxlej7f5ClNMcc5WOQOFsFqzUwIEcNIN8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1263783.RAS9JKA_o-P-Kxlej7f5ClNMcc5WOQOFsFqzUwIEcNIN8130_provenance.
- NP1263783.RAS9JKA_o-P-Kxlej7f5ClNMcc5WOQOFsFqzUwIEcNIN8130_assertion description "[Here we show that loss-of-function mutations in calpastatin (CAST) are the genetic causes of an autosomal-recessive condition characterized by generalized peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, which we propose to be given the acronym PLACK syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1263783.RAS9JKA_o-P-Kxlej7f5ClNMcc5WOQOFsFqzUwIEcNIN8130_provenance.
- NP1263783.RAS9JKA_o-P-Kxlej7f5ClNMcc5WOQOFsFqzUwIEcNIN8130_assertion evidence source_evidence_literature NP1263783.RAS9JKA_o-P-Kxlej7f5ClNMcc5WOQOFsFqzUwIEcNIN8130_provenance.
- NP1263783.RAS9JKA_o-P-Kxlej7f5ClNMcc5WOQOFsFqzUwIEcNIN8130_assertion SIO_000772 25683118 NP1263783.RAS9JKA_o-P-Kxlej7f5ClNMcc5WOQOFsFqzUwIEcNIN8130_provenance.
- NP1263783.RAS9JKA_o-P-Kxlej7f5ClNMcc5WOQOFsFqzUwIEcNIN8130_assertion wasDerivedFrom befree-2016 NP1263783.RAS9JKA_o-P-Kxlej7f5ClNMcc5WOQOFsFqzUwIEcNIN8130_provenance.
- NP1263783.RAS9JKA_o-P-Kxlej7f5ClNMcc5WOQOFsFqzUwIEcNIN8130_assertion wasGeneratedBy ECO_0000203 NP1263783.RAS9JKA_o-P-Kxlej7f5ClNMcc5WOQOFsFqzUwIEcNIN8130_provenance.
- befree-2016 importedOn "2016-02-19" NP1263783.RAS9JKA_o-P-Kxlej7f5ClNMcc5WOQOFsFqzUwIEcNIN8130_provenance.