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Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants.
Hossein Jalali
Daniel Zamanfar
Muhammad Amirzadegan
Farshide Ghadami
Mahan Mahdavi
Mohammad Reza Mahdavi
Published in:
International journal of preventive medicine (2024)
gene in each ethnic group provides valuable data regarding the understanding of the pathogenesis of the disease and can be helpful for prenatal diagnosis programs.
Keyphrases
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copy number
ejection fraction
genome wide
newly diagnosed
genome wide identification
electronic health record
big data
dna methylation
tertiary care