PubMed:2120217 JSONTXT 29 Projects

Annnotations TAB TSV DIC JSON TextAE

Id Subject Object Predicate Lexical cue
2120217-0#39#62#diseaseC0078918 39-62 diseaseC0078918 denotes oculocutaneous albinism
2120217-0#118#167#geners13312740 118-167 geners13312740 denotes arginine to glutamine substitution at position 59
2120217-8#30#36#diseaseC0001916 1263-1269 diseaseC0001916 denotes albino
2120217-8#92#130#geners13312740 1325-1363 geners13312740 denotes Arg to Gln substitution at position 59
118#167#geners1331274039#62#diseaseC0078918 2120217-0#118#167#geners13312740 2120217-0#39#62#diseaseC0078918 associated_with arginine to glutamine substitution at position 59,oculocutaneous albinism
92#130#geners1331274030#36#diseaseC0001916 2120217-8#92#130#geners13312740 2120217-8#30#36#diseaseC0001916 associated_with Arg to Gln substitution at position 59,albino