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PubMed:31825161 JSONTXT 2 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
T-0 8-36 VAR denotes homozygous nonsense mutation
T-1 40-46 GENE denotes VPS13B
T-2 97-111 DISEASE denotes Cohen syndrome
T-3 113-132 DISEASE denotes Cohen syndrome (CS)
T-4 188-197 VAR denotes mutations
T-5 205-242 GENE denotes vacuolar protein sorting 13 homolog B
T-6 244-250 GENE denotes VPS13B
T-7 261-265 GENE denotes COH1
T-8 376-382 DISEASE denotes myopia
T-9 427-434 DISEASE denotes obesity
T-10 436-448 DISEASE denotes microcephaly
T-11 485-494 DISEASE denotes scoliosis
T-12 531-542 DISEASE denotes retinopathy
T-13 555-566 DISEASE denotes neutropenia
T-14 591-619 VAR denotes homozygous nonsense mutation
T-15 627-633 GENE denotes VPS13B
T-16 846-848 DISEASE denotes CS
T-17 884-903 DISEASE denotes congenital alacrima
T-18 908-918 DISEASE denotes anhidrosis
T-19 1081-1109 VAR denotes homozygous nonsense mutation
T-20 1110-1117 VAR denotes c.62T>G
T-21 1119-1130 VAR denotes NM_152564.4
T-22 1133-1143 VAR denotes p.(Leu21*)
T-23 1151-1157 GENE denotes VPS13B
T-24 1223-1225 DISEASE denotes CS
T-25 1267-1275 DISEASE denotes alacrima
T-26 1280-1290 DISEASE denotes anhidrosis
T-27 1330-1332 DISEASE denotes CS
T-28 1357-1385 VAR denotes homozygous nonsense mutation
T-29 1393-1399 GENE denotes VPS13B
R-0 T-1 T-0 ThemeOf VPS13B,homozygous nonsense mutation
R-1 T-0 T-2 CauseOf homozygous nonsense mutation,Cohen syndrome
R-10 T-23 T-19 ThemeOf VPS13B,homozygous nonsense mutation
R-11 T-23 T-20 ThemeOf VPS13B,c.62T>G
R-12 T-23 T-21 ThemeOf VPS13B,NM_152564.4
R-13 T-29 T-28 ThemeOf VPS13B,homozygous nonsense mutation
R-2 T-27 T-26 ThemeOf CS,anhidrosis
R-3 T-27 T-25 ThemeOf CS,alacrima
R-4 T-27 T-28 ThemeOf CS,homozygous nonsense mutation
R-5 T-5 T-4 ThemeOf vacuolar protein sorting 13 homolog B,mutations
R-6 T-4 T-3 CauseOf mutations,Cohen syndrome (CS)
R-7 T-6 T-4 ThemeOf VPS13B,mutations
R-8 T-7 T-4 ThemeOf COH1,mutations
R-9 T-15 T-14 ThemeOf VPS13B,homozygous nonsense mutation