Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

Approximately 2% of de novo single-nucleotide variants (SNVs) appear as part of clustered mutations that create multinucleotide variants (MNVs). MNVs are an important source of genomic variability as they are more likely to alter an encoded protein than a SNV, which has important implications in dis...

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Detalhes bibliográficos
Publicado no:Genome Res
Main Authors: Kaplanis, Joanna, Akawi, Nadia, Gallone, Giuseppe, McRae, Jeremy F., Prigmore, Elena, Wright, Caroline F., Fitzpatrick, David R., Firth, Helen V., Barrett, Jeffrey C., Hurles, Matthew E.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6633265/
https://ncbi.nlm.nih.gov/pubmed/31227601
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.239756.118
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