Data related to article "The first case of the TARDBP p.G294V mutation in a homozygous state is a single pathogenic allele sufficient to cause ALS"
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Description of the first ALS patient presenting the c.881G>T p.G294V TARDBP mutation in homozygous status, collection of a series of heterozygous Italian ALS patients and characterization of the haplotype context of this mutation.
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Zenodo创建时间：
2021-03-29
