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Article

PAHdb: a locus-specific knowledgebase.

Human mutation - 1 Jan 2000

Scriver C R, Waters P J, Sarkissian C, Ryan S, Prevost L, Côté D, Novak J, Teebi S, Nowacki P M

Abstract excerpt

PAHdb is an online relational locus-specific "mutation database" (http://www.mcgill.ca/pahdb) for the human phenylalanine hydroxylase gene (symbol PAH) and its associated phenotypes (protein, metabolic, clinical). When combined with associated information (population distribution of allele, haplotype association, etc.) PAHdb functions as a knowledgebase. From the outset, and in the absence of raw data (e.g.,...

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Identifiers

PMID: 10612829
DOI: 10.1002/(SICI)1098-1004(200001)15:1<99::AID-HUMU18>3.0.CO;2-P

Genes

PAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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