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TARDBP p.G376D mutation, found in rapid progressive familial ALS, induces mislocalization of TDP-43

11 Apr 2018

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease which causes the progressive weakness and atrophy of limbs and respiratory muscles, resulting in death within 3-5 years of onset.Targeted next-generation sequencing has enabled a comprehensive analysis of ALS disease-causing genes [1].However, a method to confirm the pathogenicity of variants of unknown significance (VUS) remains to be...

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PMID: 29928714
DOI: 10.1016/j.ensci.2018.04.001

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