PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 22633640-5 2012 A phenylalanine loading test, cerebrospinal fluid for biogenic amines and pterins, guanosine triphosphate cyclohydrolase I enzyme activity, and direct exonic sequencing of GCH1 revealed a novel mutation (c.235_240delCTGAGC [p.L79_S80del]) in the GCH1 gene. Phenylalanine 2-15 GTP cyclohydrolase 1 Homo sapiens 172-176