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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… Click to show full 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 molecular genetic findings from our patients expand the mutational spectrum of the disease.
Keywords:
pakistani family;
tmc8 splice;
splice variant;
epidermodysplasia verruciformis
Journal Title: Clinical and experimental dermatology
Year Published: 2023
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Journal Title: Clinical and experimental dermatology
Year Published: 2023
Link to full text (if available)
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recommendations!