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Genotype-Phenotype Relationships in Phenylalanine Hydroxylase Deficiency: Functional Annotation-Enhanced Analysis of 23,427 Individuals

delete2026-07-08
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OA
AI
N
Nenad Blau *
N
Nastassja Himmelreich
DOI：10.1016/j.gim.2026.102640delete
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Abstract

Abstract

En 中文
Phenylalanine hydroxylase deficiency spans from mild hyperphenylalaninemia (MHP) to mild PKU (mPKU) and classic PKU (cPKU). Genotype-phenotype inference is complicated by allelic heterogeneity and incomplete functional annotation of cDNA-only variant strings.
Keywords:
phenylketonuria
PAH
genotype-phenotype correlation
Ensembl VEP
SpliceAI

Journal

Genetics in Medicine cover
Genetics in Medicine
IF:
6.2
Papers:
5.1K
Citations:
2.0W

Organization

U
University Children's Hospital
Scholars:
68
Papers: 40
Citations: 0
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