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High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines

The development of high-throughput sequencing technologies and screening of big patient cohorts with familial and sporadic amyotrophic lateral sclerosis (ALS) led to the identification of a significant number of genetic variants, which are sometimes difficult to interpret. The American College of Me...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Lattante, Serena, Marangi, Giuseppe, Doronzio, Paolo Niccolò, Conte, Amelia, Bisogni, Giulia, Zollino, Marcella, Sabatelli, Mario
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7600768/
https://ncbi.nlm.nih.gov/pubmed/32987860
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11101123
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