Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP403612.RAcUSV6noS2nbgWo5k-YmZAvRqVZki0O_aV_t9UbzUIDU130_assertion> ?p ?o ?g. }
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- NP403612.RAcUSV6noS2nbgWo5k-YmZAvRqVZki0O_aV_t9UbzUIDU130_assertion type Assertion NP403612.RAcUSV6noS2nbgWo5k-YmZAvRqVZki0O_aV_t9UbzUIDU130_head.
- NP403612.RAcUSV6noS2nbgWo5k-YmZAvRqVZki0O_aV_t9UbzUIDU130_assertion description "[Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP403612.RAcUSV6noS2nbgWo5k-YmZAvRqVZki0O_aV_t9UbzUIDU130_provenance.
- NP403612.RAcUSV6noS2nbgWo5k-YmZAvRqVZki0O_aV_t9UbzUIDU130_assertion evidence source_evidence_literature NP403612.RAcUSV6noS2nbgWo5k-YmZAvRqVZki0O_aV_t9UbzUIDU130_provenance.
- NP403612.RAcUSV6noS2nbgWo5k-YmZAvRqVZki0O_aV_t9UbzUIDU130_assertion SIO_000772 23456229 NP403612.RAcUSV6noS2nbgWo5k-YmZAvRqVZki0O_aV_t9UbzUIDU130_provenance.
- NP403612.RAcUSV6noS2nbgWo5k-YmZAvRqVZki0O_aV_t9UbzUIDU130_assertion wasDerivedFrom befree-20150227 NP403612.RAcUSV6noS2nbgWo5k-YmZAvRqVZki0O_aV_t9UbzUIDU130_provenance.
- NP403612.RAcUSV6noS2nbgWo5k-YmZAvRqVZki0O_aV_t9UbzUIDU130_assertion wasGeneratedBy ECO_0000203 NP403612.RAcUSV6noS2nbgWo5k-YmZAvRqVZki0O_aV_t9UbzUIDU130_provenance.