PubMed:20106987 / 1066-1293 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
20106987_2 4-9 ProteinMutation denotes E624K rs387906607

sentences

Id Subject Object Predicate Lexical cue
T8 0-227 Sentence denotes The E624K substitution altered the electrostatic potential of the region surrounding the metal ion-dependent adhesion site, resulting in a collagen VI network containing thick fibrils and spots with densely packed microfibrils.

PubmedHPO

Id Subject Object Predicate Lexical cue
T3 199-206 HP_0011088 denotes densely

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
20106987-7#4#9#geners387906607 4-9 geners387906607 denotes E624K
20106987-7#188#193#diseaseC0015230 188-193 diseaseC0015230 denotes spots
20106987-7#188#193#diseaseC0848332 188-193 diseaseC0848332 denotes spots
4#9#geners387906607188#193#diseaseC0015230 20106987-7#4#9#geners387906607 20106987-7#188#193#diseaseC0015230 associated_with E624K,spots
4#9#geners387906607188#193#diseaseC0848332 20106987-7#4#9#geners387906607 20106987-7#188#193#diseaseC0848332 associated_with E624K,spots

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T2 188-193 Body_part denotes spots http://purl.obolibrary.org/obo/UBERON_2002283