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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the COL7A1 gene: A case report

Yan Yang1, Zhi-Wei Guan2, Qin-Feng Li3

  • 1Department of Nursing, Tianjin Children's Hospital, Tianjin 300074, China.

World Journal of Clinical Cases
|April 17, 2025
PubMed
Abstract

Keywords:
COL7A1 geneCase reportDystrophic epidermolysis bullosaFrameshift mutationGenetic testingGenetic typingImmunoglobulin

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