Related Experiment Video

Updated: Aug 14, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Novel Variant and a Possible New Founder Effect for Xeroderma Pigmentosum Variant Type in Southeast Brazil: Case

Leonardo Ávila Ferreira1, Mara Sanches Guaragna2, Carlos Eduardo Steiner2

  • 1Dermatology Division, Department of Internal Medicine, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.

Case Reports in Dermatology
|August 13, 2026
PubMed
Abstract

Keywords:
Founder effectGenetic testingMolecular diagnosisPOLHPolymerase ηXeroderma pigmentosumXeroderma pigmentosum-V

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