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A Variant-Specific Mutational Effect

Shereen G Ghosh et al.
September 08, 2020

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

A given genetic disorder is usually associated with numerous distinct mutations in the underlying gene. For a novel neurodegenerative syndrome, however, only a single TRAPPC4 variant seems to be causative. A cohort of 23 pertinent patients, many of which were identified at CENTOGENE, was published in the European Journal of Human Genetics.