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Article

Strong bias in the location of functional promoter polymorphisms.

Human mutation - 1 Sept 2005

Buckland Paul R, Hoogendoorn Bastiaan, Coleman Sharon L, Guy Carol A, Smith S Kaye, O'Donovan Michael C

Abstract excerpt

A considerable proportion of heritable human phenotypic variation is thought to result from altered gene expression. Unfortunately, it is currently impossible to use bioinformatic analysis to discriminate between DNA sequence variants that are likely to influence gene expression and those that are not. In an attempt to define some of the characteristics of promoter polymorphisms with functional effects on gene...

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Source

Identifiers

PMID: 16086313
DOI: 10.1002/humu.20207

Genes

CAT
CHRNA5
CTSG
DLD
ERCC1
GABRA1
GABRP
HIP1
KCNJ15
KCNK6
KLK1
MSMB
MYOC
NOTCH4
ORM2
PTPRCAP
TSHR

Provenance

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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