Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes
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England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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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...
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Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes
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TN_cdi_doaj_primary_oai_doaj_org_article_56558a63c9c34cb1b10bcf982207b687
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_56558a63c9c34cb1b10bcf982207b687
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ISSN
1479-7364,1473-9542
E-ISSN
1479-7364
DOI
10.1186/s40246-024-00573-0