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Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.
Eur J Neurol. 2022 Apr;29(4):1174-1180. doi: 10.1111/ene.15218. Epub 2022 Jan 7.
Eur J Neurol. 2022.
PMID: 34935254
Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature.
Stern T, Orenstein N, Fellner A, Lev-El Halabi N, Shuldiner AR, Gonzaga-Jauregui C, Lidzbarsky G, Basel-Salmon L, Goldberg-Stern H.
Stern T, et al. Among authors: lev el halabi n.
Am J Med Genet A. 2021 Mar;185(3):901-908. doi: 10.1002/ajmg.a.62026. Epub 2021 Jan 4.
Am J Med Genet A. 2021.
PMID: 33393734
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