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Article

Polymorphically duplicated genes: their relevance to phenotypic variation in humans.

Annals of medicine - 1 Jan 2003

Buckland Paul R

Abstract excerpt

A number of disorders are known to be caused by duplication of genes, but these are all rare events. However, there is evidence that polymorphic gene duplication may be common and a growing number of genes are known to be duplicated in a polymorphic manner although phenotypes cannot be associated with most of these. Gene duplication occurring due to cytogenetic abnormalities such as Down syndrome predisposes the...

Topics

Cyclic AMP Response Element-Binding Protein
Cytochrome P-450 CYP2D6
Gene Deletion
Genes, Duplicate
Humans
Muscular Atrophy, Spinal
Nerve Tissue Proteins
Phenotype
Polymorphism, Genetic
Promoter Regions, Genetic
RNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

SMN Complex Proteins

Source

Identifiers

PMID: 12952017
DOI: 10.1080/07853890310001276

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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