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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Genome Res
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Cold Spring Harbor Laboratory Press 2019
Onderwerpen:
Research
Online toegang: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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items