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Human SNPs resulting in premature stop codons and protein truncation

Single nucleotide polymorphisms (SNPs) constitute the most common type of genetic variation in humans. SNPs introducing premature termination codons (PTCs), herein called X-SNPs, can alter the stability and function of transcripts and proteins and thus are considered to be biologically important. In...

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Autori principali: Savas, Sevtap, Tuzmen, Sukru, Ozcelik, Hilmi
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2006
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3500177/
https://ncbi.nlm.nih.gov/pubmed/16595072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1479-7364-2-5-274
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