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Article

Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event.

Human mutation - 1 May 2010

Ganster Christina, Wernstedt Annekatrin, Kehrer-Sawatzki Hildegard, Messiaen Ludwine, Schmidt Konrad, Rahner Nils, Heinimann Karl, Fonatsch Christa, Zschocke Johannes, Wimmer Katharina

Abstract excerpt

Sequence exchange between PMS2 and its pseudogene PMS2CL, embedded in an inverted duplication on chromosome 7p22, has been reported to be an ongoing process that leads to functional PMS2 hybrid alleles containing PMS2- and PMS2CL-specific sequence variants at the 5'-and the 3'-end, respectively....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20186689
DOI: 10.1002/humu.21223
PMCID: PMC3341089

Genes

PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20186689-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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