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Article

PAHdb 2003: what a locus-specific knowledgebase can do.

Human mutation - 1 Apr 2003

Scriver Charles R, Hurtubise Mélanie, Konecki David, Phommarinh Manyphong, Prevost Lynne, Erlandsen Heidi, Stevens Ray, Waters Paula J, Ryan Shannon, McDonald David, Sarkissian Christineh

Abstract excerpt

PAHdb, a legacy of and resource in genetics, is a relational locus-specific database (http://www.pahdb.mcgill.ca). It records and annotates both pathogenic alleles (n = 439, putative disease-causing) and benign alleles (n = 41, putative untranslated polymorphisms) at the human phenylalanine hydroxylase locus (symbol PAH). Human alleles named by nucleotide number (systematic names) and their trivial names receive...

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Source

Identifiers

PMID: 12655543
DOI: 10.1002/humu.10200

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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