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- source_evidence_literature type ECO_0000212 NP976766.RAVne9mwF2tyxc_A5ooMv52KkHwOrdqT6Ge1QKaMin4rs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP976766.RAVne9mwF2tyxc_A5ooMv52KkHwOrdqT6Ge1QKaMin4rs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP976766.RAVne9mwF2tyxc_A5ooMv52KkHwOrdqT6Ge1QKaMin4rs130_provenance.
- NP976766.RAVne9mwF2tyxc_A5ooMv52KkHwOrdqT6Ge1QKaMin4rs130_assertion description "[Mutations in genes encoding Fras1, Frem1 and Frem2 are causative for dermal-epidermal detachment in the plane of sublamina densa and have been identified in different classes of mouse bleb mutants, the murine model of human Fraser syndrome, the hallmark phenotypic characteristics of which are embryonic skin blistering, cryptophthalmos and renal agenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP976766.RAVne9mwF2tyxc_A5ooMv52KkHwOrdqT6Ge1QKaMin4rs130_provenance.
- NP976766.RAVne9mwF2tyxc_A5ooMv52KkHwOrdqT6Ge1QKaMin4rs130_assertion evidence source_evidence_literature NP976766.RAVne9mwF2tyxc_A5ooMv52KkHwOrdqT6Ge1QKaMin4rs130_provenance.
- NP976766.RAVne9mwF2tyxc_A5ooMv52KkHwOrdqT6Ge1QKaMin4rs130_assertion SIO_000772 21182980 NP976766.RAVne9mwF2tyxc_A5ooMv52KkHwOrdqT6Ge1QKaMin4rs130_provenance.
- NP976766.RAVne9mwF2tyxc_A5ooMv52KkHwOrdqT6Ge1QKaMin4rs130_assertion wasDerivedFrom befree-20150227 NP976766.RAVne9mwF2tyxc_A5ooMv52KkHwOrdqT6Ge1QKaMin4rs130_provenance.
- NP976766.RAVne9mwF2tyxc_A5ooMv52KkHwOrdqT6Ge1QKaMin4rs130_assertion wasGeneratedBy ECO_0000203 NP976766.RAVne9mwF2tyxc_A5ooMv52KkHwOrdqT6Ge1QKaMin4rs130_provenance.
- befree-20150227 importedOn "2015-02-27" NP976766.RAVne9mwF2tyxc_A5ooMv52KkHwOrdqT6Ge1QKaMin4rs130_provenance.