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"
Authors/Creators
- 1. Fondazione IRCCS - Istituto Neurologico Carlo Besta di Milano
Description
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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Related works
- Is supplement to
- Journal article: 10.1080/21678421.2019.1704011 (DOI)