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Challenges in Clinicogenetic Correlations: One Gene – Many Phenotypes

BACKGROUND: Progress in genetics – particularly the advent of next‐generation sequencing (NGS) – has enabled an unparalleled gene discovery and revealed unmatched complexity of genotype–phenotype correlations in movement disorders. Among other things, it has emerged that mutations in one and the sam...

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Detalles Bibliográficos
Autores principales: Magrinelli, Francesca, Balint, Bettina, Bhatia, Kailash P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8015894/
https://www.ncbi.nlm.nih.gov/pubmed/33816657
http://dx.doi.org/10.1002/mdc3.13165