A monoallelic 8q24.3-duplication involving a single protein encoding TSNARE1 gene may be linked to a new leukodystrophy
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TSNARE1 regulates the endolysosomal membrane trafficking in cortical neurons and its overexpression might be associated with schizophrenia, but no definitive link to this or any other human pathology has been established yet. Here we present the heterozygous d... ...