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Publications
1 records shown · first 60BH4-deficient hyperphenylalaninemia in Russia.
PMID 33822819 | PMCID PMC8023510 | DOI 10.1371/journal.pone.0249608 · PloS one · 2021 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Thr106Met | “The mutation spectrum for the PTS gene was defined, the most common variants in Russia were p.Thr106Met-32%, p.Asn72Lys-20%, p.Arg9His-8%, p.Ser32Gly-6%.” | 0.95 | hgvs_regex_v1 |
| gene | PAH | “Often HPABH4 patients receive the same therapy as phenylalanine hydroxylase (PAH) -deficiency (phenylketonuria) patients-dietary treatment-and do not receive substitutive BH4 therapy until the diagnosis is confirmed by molecular genetic means.” | 0.98 | hgnc_dict_v1 |
| gene | PTS | “The mutation spectrum for the PTS gene was defined, the most common variants in Russia were p.Thr106Met-32%, p.Asn72Lys-20%, p.Arg9His-8%, p.Ser32Gly-6%.” | 0.98 | hgnc_dict_v1 |
| gene | QDPR | “We also detected 7 novel PTS variants and 3 novel QDPR variants.” | 0.98 | hgnc_dict_v1 |