Article

Assesment of pathogenic variants in the PAH gene and genotype-phenotype correlation in Phenylketonuria patients from Turkey.

2024-06-10

Abstract excerpt

<title>Abstract</title> <p>This study aims to determine the allele and genotype frequency, evaluate genotype-phenotype correlation, and contribute to the spectrum of pathogenic variants in the <italic>PAH</italic> gene. Ninety-three individuals diagnosed with PKU were included in the study. Next-generation sequencing was utilized for detecting variants in the <italic>PAH</italic> gene. Copy Number Variations in p...

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Literature Corpus work: c1294647-65ae-5274-82be-a301175b470c
DOI: 10.21203/rs.3.rs-4452862/v1

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