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- source_evidence_literature type ECO_0000212 NP538329.RAh0a3C5qLB-jwkuwDi6_lPKwraaZ6RDZRRVy4Fy9RCHs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP538329.RAh0a3C5qLB-jwkuwDi6_lPKwraaZ6RDZRRVy4Fy9RCHs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP538329.RAh0a3C5qLB-jwkuwDi6_lPKwraaZ6RDZRRVy4Fy9RCHs130_provenance.
- NP538329.RAh0a3C5qLB-jwkuwDi6_lPKwraaZ6RDZRRVy4Fy9RCHs130_assertion description "[In contrast, insertional mutations resulting in a frameshift in the C-terminal domain of loricrin produce the characteristic ichthyosis of loricrin keratoderma in mouse and man.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP538329.RAh0a3C5qLB-jwkuwDi6_lPKwraaZ6RDZRRVy4Fy9RCHs130_provenance.
- NP538329.RAh0a3C5qLB-jwkuwDi6_lPKwraaZ6RDZRRVy4Fy9RCHs130_assertion evidence source_evidence_literature NP538329.RAh0a3C5qLB-jwkuwDi6_lPKwraaZ6RDZRRVy4Fy9RCHs130_provenance.
- NP538329.RAh0a3C5qLB-jwkuwDi6_lPKwraaZ6RDZRRVy4Fy9RCHs130_assertion SIO_000772 15102081 NP538329.RAh0a3C5qLB-jwkuwDi6_lPKwraaZ6RDZRRVy4Fy9RCHs130_provenance.
- NP538329.RAh0a3C5qLB-jwkuwDi6_lPKwraaZ6RDZRRVy4Fy9RCHs130_assertion wasDerivedFrom befree-20150227 NP538329.RAh0a3C5qLB-jwkuwDi6_lPKwraaZ6RDZRRVy4Fy9RCHs130_provenance.
- NP538329.RAh0a3C5qLB-jwkuwDi6_lPKwraaZ6RDZRRVy4Fy9RCHs130_assertion wasGeneratedBy ECO_0000203 NP538329.RAh0a3C5qLB-jwkuwDi6_lPKwraaZ6RDZRRVy4Fy9RCHs130_provenance.
- befree-20150227 importedOn "2015-02-27" NP538329.RAh0a3C5qLB-jwkuwDi6_lPKwraaZ6RDZRRVy4Fy9RCHs130_provenance.