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Relation between DNA ionization potentials, single base substitutions and pathogenic variants

BACKGROUND: It is nowadays clear that single base substitutions that occur in the human genome, of which some lead to pathogenic conditions, are non-random and influenced by their flanking nucleobase sequences. However, despite recent progress, the understanding of these "non-local" effect...

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Publicat a:BMC Genomics
Autors principals: Pucci, Fabrizio, Rooman, Marianne
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6631442/
https://ncbi.nlm.nih.gov/pubmed/31307386
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-019-5867-y
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