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Article

Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.

European journal of human genetics : EJHG - 1 Mar 2015

Wettstein Sarah, Underhaug Jarl, Perez Belen, Marsden Brian D, Yue Wyatt W, Martinez Aurora, Blau Nenad

Abstract excerpt

The wide range of metabolic phenotypes in phenylketonuria is due to a large number of variants causing variable impairment in phenylalanine hydroxylase function. A total of 834 phenylalanine hydroxylase gene variants from the locus-specific database PAHvdb and genotypes of 4181 phenylketonuria pa...

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Identifiers

PMID: 24939588
DOI: 10.1038/ejhg.2014.114
PMCID: PMC4326710

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24939588-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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