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HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism.
He N, Guan BZ, Wang J, Liu HK, Mao Y, Liu ZG, Yin F, Peng J, Xiao B, Tang BS, Zhou D, Huang G, Dai QL, Zeng Y, Han H, Zhai QX, Li B, Tang B, Li WB, Song W, Liu L, Shi YW, Li BM, Su T, Zhou P, Liu XR, Guo LW, Yi YH, Liao WP. He N, et al. Among authors: zhou d, zhou p. Clin Transl Med. 2023 Jun;13(6):e1289. doi: 10.1002/ctm2.1289. Clin Transl Med. 2023. PMID: 37264743 Free PMC article.
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Yang J, Wang Q, Zhuo Q, Tian H, Li W, Luo F, Zhang J, Bi D, Peng J, Zhou D, Xin H. Yang J, et al. Among authors: zhou d. Mol Genet Genomic Med. 2018 Sep;6(5):739-748. doi: 10.1002/mgg3.428. Epub 2018 Jul 4. Mol Genet Genomic Med. 2018. PMID: 29974678 Free PMC article.
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