A missense mutation in human INSC causes peripheral neuropathy.
Yeh JY, Chao HC, Hong CL, Hung YC, Tzou FY, Hsiao CT, Li JL, Chen WJ, Chou CT, Tsai YS, Liao YC, Lin YC, Lin S, Huang SY, Kennerson M, Lee YC, Chan CC
EMBO Mol Med. 2024 May;16(5):1091-1114. doi: 10.1038/s44321-024-00062-w. Epub 2024 Apr 8.
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