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TITINdb—a computational tool to assess titin’s role as a disease gene

SUMMARY: Large numbers of rare and unique titin missense variants have been discovered in both healthy and disease cohorts, thus the correct classification of variants as pathogenic or non-pathogenic has become imperative. Due to titin’s large size (363 coding exons), current web applications are un...

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Bibliografische gegevens
Gepubliceerd in:Bioinformatics
Hoofdauteurs: Laddach, Anna, Gautel, Mathias, Fraternali, Franca
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2017
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5860166/
https://ncbi.nlm.nih.gov/pubmed/29077808
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btx424
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