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- W4387244551 abstract "Rare genetic variants have been previously associated with amyotrophic lateral sclerosis (ALS). In a large multi-ethnic cohort of 6,970 ALS patients, rare variant burden testing validated known ALS genes and demonstrated the utility of intolerant domain-based collapsing methods. A first-ever analysis in 166 patients with primary lateral sclerosis (PLS), a motor neuron disease related to ALS, found a candidate association to loss-of-function mutations in ANTXR2." @default.
- W4387244551 created "2023-10-03" @default.
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- W4387244551 date "2023-10-02" @default.
- W4387244551 modified "2023-10-03" @default.
- W4387244551 title "Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS" @default.
- W4387244551 doi "https://doi.org/10.1101/2023.09.30.23296353" @default.
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