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Challenges in Clinicogenetic Correlations: One Phenotype – Many Genes

BACKGROUND: In the field of movement disorders, what you see (phenotype) is seldom what you get (genotype). Whereas 1 phenotype was previously associated to 1 gene, the advent of next‐generation sequencing (NGS) has facilitated an exponential increase in disease‐causing genes and genotype–phenotype...

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Detalles Bibliográficos
Autores principales: Gannamani, Rahul, van der Veen, Sterre, van Egmond, Martje, de Koning, Tom J., Tijssen, Marina A.J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8015914/
https://www.ncbi.nlm.nih.gov/pubmed/33816658
http://dx.doi.org/10.1002/mdc3.13163