Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_assertion> ?p ?o ?g. }
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- NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_assertion type Assertion NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_head.
- NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_assertion description "[Supportive evidence for linkage to a JAE related IGE spectrum (Zmax = 1.67 at GRIK1) under an autosomal dominant mode of inheritance and significant allele sharing (P < 0.05) among the affected family members suggest that allelic variants of GRIK1 contribute a major genetic determinant to the pathogenesis of JAE-related phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_provenance.
- NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_assertion evidence source_evidence_literature NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_provenance.
- NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_assertion SIO_000772 9259378 NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_provenance.
- NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_assertion wasDerivedFrom befree-2016 NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_provenance.
- NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_assertion wasGeneratedBy ECO_0000203 NP1378705.RAEdEAOO_YJrnD1_T_8M6aSFqAZ9cyAJ7Zt9JcAizDMew130_provenance.