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A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR

Li Peng1,2, Erkuan Dai3, Haodong Xiao3

  • 1Sichuan Provincial Key Laboratory for Human Disease Gene Study and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.

Molecular Genetics & Genomic Medicine
|April 13, 2022
PubMed
Abstract

Keywords:
TSPAN12FEVRNorrin/β-catenin pathwayframeshift variant

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