Article

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA NGS data of ALS patients

2018-07-26

Abstract excerpt

Amyotrophic lateral sclerosis (ALS, MND) is a neurodegenerative disease of upper and lower motor neurons resulting in death from neuromuscular respiratory failure, typically within two years of first symptoms. Genetic factors are an important cause of ALS, with variants in more than 25 genes having strong evidence, and weaker evidence available for variants in more than 120 genes. With the increasing availability...

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Literature Corpus work: 92966a29-77b5-596d-af23-18bfaa80596e
DOI: 10.1101/378158

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