Variations in genotype–phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
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1. Allelic phenotype prediction of phenylketonuria based on the machine learning method;Human Genomics;2023-03-31
2. Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province;Frontiers in Genetics;2023-02-09
3. Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China;Molecular Biology Reports;2022-09-14
4. Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria;Journal of Pediatric Endocrinology and Metabolism;2022-01-14
5. Identification and characterization of a novel deletion in the phenylalanine hydroxylase gene of a Chinese patient;Gene Reports;2020-12
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