Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP387333.RA3-w2yeMQH8q9ixelHhPTbP0Ub5r4BuNp4OcakIhdT9s130_assertion> ?p ?o ?g. }
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- NP387333.RA3-w2yeMQH8q9ixelHhPTbP0Ub5r4BuNp4OcakIhdT9s130_assertion type Assertion NP387333.RA3-w2yeMQH8q9ixelHhPTbP0Ub5r4BuNp4OcakIhdT9s130_head.
- NP387333.RA3-w2yeMQH8q9ixelHhPTbP0Ub5r4BuNp4OcakIhdT9s130_assertion description "[SMA with respiratory distress 1 (SMARD1), an uncommon variant of infantile SMA also inherited in an autosomal recessive manner, is caused by mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP387333.RA3-w2yeMQH8q9ixelHhPTbP0Ub5r4BuNp4OcakIhdT9s130_provenance.
- NP387333.RA3-w2yeMQH8q9ixelHhPTbP0Ub5r4BuNp4OcakIhdT9s130_assertion evidence source_evidence_literature NP387333.RA3-w2yeMQH8q9ixelHhPTbP0Ub5r4BuNp4OcakIhdT9s130_provenance.
- NP387333.RA3-w2yeMQH8q9ixelHhPTbP0Ub5r4BuNp4OcakIhdT9s130_assertion SIO_000772 18298318 NP387333.RA3-w2yeMQH8q9ixelHhPTbP0Ub5r4BuNp4OcakIhdT9s130_provenance.
- NP387333.RA3-w2yeMQH8q9ixelHhPTbP0Ub5r4BuNp4OcakIhdT9s130_assertion wasDerivedFrom befree-20140225 NP387333.RA3-w2yeMQH8q9ixelHhPTbP0Ub5r4BuNp4OcakIhdT9s130_provenance.
- NP387333.RA3-w2yeMQH8q9ixelHhPTbP0Ub5r4BuNp4OcakIhdT9s130_assertion wasGeneratedBy ECO_0000203 NP387333.RA3-w2yeMQH8q9ixelHhPTbP0Ub5r4BuNp4OcakIhdT9s130_provenance.