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Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_56558a63c9c34cb1b10bcf982207b687

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes

About this item

Full title

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes

Publisher

England: BioMed Central Ltd

Journal title

Human Genomics, 2024-01, Vol.18 (1), p.5-10, Article 5

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Mismatch repair (MMR) system is evolutionarily conserved for genome stability maintenance. Germline pathogenic variants (PVs) in MMR genes that lead to MMR functional deficiency are associated with high cancer risk. Knowing the evolutionary origin of germline PVs in human MMR genes will facilitate understanding the biological base of MMR deficiency...

Alternative Titles

Full title

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_56558a63c9c34cb1b10bcf982207b687

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_56558a63c9c34cb1b10bcf982207b687

Other Identifiers

ISSN

1479-7364,1473-9542

E-ISSN

1479-7364

DOI

10.1186/s40246-024-00573-0

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