A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
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Dofash LNH, et al.
Hum Mol Genet. 2023 Mar 20;32(7):1127-1136. doi: 10.1093/hmg/ddac272.
Hum Mol Genet. 2023.
PMID: 36322148