The mutational dynamics of short tandem repeats in large, multigenerational families

BACKGROUND: Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome. Improving our understanding of these mutation...

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Detalles Bibliográficos
Autores principales: Steely, Cody J., Watkins, W. Scott, Baird, Lisa, Jorde, Lynn B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9743774/
https://www.ncbi.nlm.nih.gov/pubmed/36510265
http://dx.doi.org/10.1186/s13059-022-02818-4

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