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Updated: Oct 17, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Novel Point Mutation of EBSS Gene Coexisted with 1p36 Deletion

Yue Zheng1, Qingfang Xu1, Wei Lai1

  • 1Department of Dermato-Venereology, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, P. R. China.

Annals of Dermatology
|October 7, 2021
PubMed

Keywords:
Chromosome 1p36 deletion syndromeEpidermolysis bullosa simplex superficialisGenetic variation

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