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Paper Details

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.
BMC Neurol
12
2020
Childhood neurodegeneration, UBTF, UBTF putative, UBTF variant, c.628G, c.628G>A, child, febrile illnesses, hg19, monoallelic, monoallelic UBTF variant, monogenic neurodegenerative disease, neurodegeneration
Author NameAffiliation
Mathieu QuinodozUniversity of Lausanne
Carlo RivoltaUniversity of Lausanne
Carlo RivoltaUniversity of Leicester, University Road
Carlo RivoltaUniversity of Lausanne
Carlo RivoltaUniversity of Leicester, University Road
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