Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarif...
Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer
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Public Library of Science (PLoS)
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English
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Public Library of Science (PLoS)
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Lynch syndrome is a heritable condition caused by a heterozygous germline inactivating mutation of the DNA mismatch repair (MMR) genes, most commonly the MLH1 gene. However, one third of the identified alterations are missense variants, for which the clinical significance is unclear in many cases. We have identified three MLH1 missense alterations...
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Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer
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TN_cdi_doaj_primary_oai_doaj_org_article_8ce066c59f6e4b189f5a83bda86559fb
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8ce066c59f6e4b189f5a83bda86559fb
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E-ISSN
1932-6203
DOI
10.1371/journal.pone.0278283
