Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_assertion> ?p ?o ?g. }
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- NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_assertion type Assertion NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_head.
- NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_assertion description "[Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_provenance.
- NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_assertion evidence source_evidence_literature NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_provenance.
- NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_assertion SIO_000772 25817015 NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_provenance.
- NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_assertion wasDerivedFrom befree-2016 NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_provenance.
- NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_assertion wasGeneratedBy ECO_0000203 NP1274376.RA-QeJa4PgbPnq8f813Sc6aFpZ-PDuQP_PO4_ksKZ5o_Q130_provenance.