Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP278887.RA6xb8XvlLZxJ1qKvkwshLMwW9eKvTYeUMmWOdYQo8-6c130_assertion> ?p ?o ?g. }
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- NP278887.RA6xb8XvlLZxJ1qKvkwshLMwW9eKvTYeUMmWOdYQo8-6c130_assertion type Assertion NP278887.RA6xb8XvlLZxJ1qKvkwshLMwW9eKvTYeUMmWOdYQo8-6c130_head.
- NP278887.RA6xb8XvlLZxJ1qKvkwshLMwW9eKvTYeUMmWOdYQo8-6c130_assertion description "[We have previously reported that loss-of-function mutations in the cathepsin C gene (CTSC) result in Papillon-Lef�vre syndrome, an autosomal recessive condition characterized by palmoplantar keratosis and early-onset, severe periodontitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP278887.RA6xb8XvlLZxJ1qKvkwshLMwW9eKvTYeUMmWOdYQo8-6c130_provenance.
- NP278887.RA6xb8XvlLZxJ1qKvkwshLMwW9eKvTYeUMmWOdYQo8-6c130_assertion evidence source_evidence_literature NP278887.RA6xb8XvlLZxJ1qKvkwshLMwW9eKvTYeUMmWOdYQo8-6c130_provenance.
- NP278887.RA6xb8XvlLZxJ1qKvkwshLMwW9eKvTYeUMmWOdYQo8-6c130_assertion SIO_000772 14974080 NP278887.RA6xb8XvlLZxJ1qKvkwshLMwW9eKvTYeUMmWOdYQo8-6c130_provenance.
- NP278887.RA6xb8XvlLZxJ1qKvkwshLMwW9eKvTYeUMmWOdYQo8-6c130_assertion wasDerivedFrom befree-20140225 NP278887.RA6xb8XvlLZxJ1qKvkwshLMwW9eKvTYeUMmWOdYQo8-6c130_provenance.
- NP278887.RA6xb8XvlLZxJ1qKvkwshLMwW9eKvTYeUMmWOdYQo8-6c130_assertion wasGeneratedBy ECO_0000203 NP278887.RA6xb8XvlLZxJ1qKvkwshLMwW9eKvTYeUMmWOdYQo8-6c130_provenance.