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Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein
In clinical genetic diagnostics, it is difficult to predict whether genetic mutations that do not greatly alter the primary sequence of the encoded protein causing unknown functional effects on cognate proteins lead to development of disease. Here, we report the clinical identification of c.2038 T&g...
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| Autori principali: | , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BlackWell Publishing Ltd
2014
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4113276/ https://ncbi.nlm.nih.gov/pubmed/25077178 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.80 |
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