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Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: Evolutionary evidence for differences in molecular effects

Most Mendelian diseases studied to date arise from mutations that lead to a single amino acid change in an encoded protein. An increasing number of complex diseases have also been associated with amino acid-changing single-nucleotide polymorphisms (coding SNPs, cSNPs), suggesting potential similarit...

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Autori principali: Thomas, Paul D., Kejariwal, Anish
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2004
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC523449/
https://ncbi.nlm.nih.gov/pubmed/15492219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0404380101
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