A TMC8 splice variant causes epidermodysplasia verruciformis in a Pakistani family.
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DOI: 10.1093/ced/llad042
Abstract: We identified a novel homozygous disease-causing variant in TMC8 in a Pakistani family with Epidermodysplasia Verruciformis (EV). The phenotype of EV in the affected individuals was most probably caused by an aberrant splicing process. The… read more here.
Keywords: pakistani family; tmc8 splice; splice variant; epidermodysplasia verruciformis ... See more keywords