Yufeng Huang
4PUBLICATIONS
3CO-AUTHORS
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Publications (4)
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|Apr 01, 2025
Identification of a new gain-of-function variant p.N536Y of KCNMA1 associated with PNKD3 in the Chinese population.Yufeng Huang, Lina Liang, Xuebin Xu
|Oct 17, 2022
A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review.Sukun Luo, Yanqiu Hu, Ping Xiong
|Dec 13, 2021
Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene.Yufeng Huang, Bo Bi, Peiwei Zhao
|Dec 18, 2020
A novel STS mutation and an Xp22.31 microdeletion in a Chinese family with X-linked ichthyosis.Y Huang, S Luo, P Zhao
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