PubMed:10029606 / 1012-1104 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
10029606_2 75-80 ProteinMutation denotes C282Y rs1800562

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T7 0-92 Sentence denotes One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote.
T7 0-92 Sentence denotes One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote.

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10029606-6#75#80#geners1800562 75-80 geners1800562 denotes C282Y
10029606-6#13#18#geners137852310 13-18 geners137852310 denotes Y199H
10029606-6#67#69#diseaseC0392514 67-69 diseaseC0392514 denotes HH
75#80#geners180056267#69#diseaseC0392514 10029606-6#75#80#geners1800562 10029606-6#67#69#diseaseC0392514 associated_with C282Y,HH
13#18#geners13785231067#69#diseaseC0392514 10029606-6#13#18#geners137852310 10029606-6#67#69#diseaseC0392514 associated_with Y199H,HH