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A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
Hum Mol Genet. 2023 Mar 20;32(7):1127-1136. doi: 10.1093/hmg/ddac272.
Hum Mol Genet. 2023.
PMID: 36322148
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Mavillard F, Servian-Morilla E, Dofash L, Rojas-Marcos I, Folland C, Monahan G, Gutierrez-Gutierrez G, Rivas E, Hernández-Lain A, Valladares A, Cantero G, Morales JM, Laing NG, Paradas C, Ravenscroft G, Cabrera-Serrano M.
Mavillard F, et al.
Brain. 2023 Dec 1;146(12):5235-5248. doi: 10.1093/brain/awad256.
Brain. 2023.
PMID: 37503746
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