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Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant
| Title: | Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant | Authors: | Klaassen, K   ; Kecman, B; Stankovic, S ; Komazec, Jovana ; Pavlovic, S ; Stojiljkovic, Maja ; Djordjevic, M |
Issue Date: | 2025 | Publication: | SCIENTIFIC REPORTS | ISSN: | 2045-2322 Scientific Reports Search Idenfier |
Type: | Article | Collation: | vol. 15 br. 1 | DOI: | 10.1038/s41598-025-04611-2 | WoS-ID: | 001504119700016 | Scopus-ID: | 2-s2.0-105007690216 | PMID: | 40473815 | PMCID: | PMC12141581 | URI: | https://enauka.gov.rs/handle/123456789/985804 https://imagine.imgge.bg.ac.rs/handle/123456789/3201 |
Project: | Horizon Europe Project BRIDGING-RD [HORIZON-WIDERA-2023-ACCESS-02, 101160079] Ministry of Science, Technological Development and Innovation of the Republic of Serbia [451-03-136/2025-03/200042] |
Metadata source: | (Preuzeto iz Nasi u WoS) | M-category: | 21M21 |
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