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HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism

BACKGROUND: HCFC1 encodes transcriptional co‐regulator HCF‐1, which undergoes an unusual proteolytic maturation at a centrally located proteolysis domain. HCFC1 variants were associated with X‐linked cobalamin metabolism disorders and mental retardation‐3. This study aimed to explore the role of HCF...

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Detalles Bibliográficos
Autores principales:	He, Na, Guan, Bao‐Zhu, Wang, Jie, Liu, Han‐Kui, Mao, Yong, Liu, Zhi‐Gang, Yin, Fei, Peng, Jing, Xiao, Bo, Tang, Bei‐sha, Zhou, Dong, Huang, Guang, Dai, Qi‐Lin, Zeng, Ying, Han, Hong, Zhai, Qiong‐Xiang, Li, Bin, Tang, Bin, Li, Wen‐Bin, Song, Wang, Liu, Liu, Shi, Yi‐Wu, Li, Bing‐Mei, Su, Tao, Zhou, Peng, Liu, Xiao‐Rong, Guo, Li‐Wu, Yi, Yong‐Hong, Liao, Wei‐Ping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2023
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235798/ https://www.ncbi.nlm.nih.gov/pubmed/37264743 http://dx.doi.org/10.1002/ctm2.1289

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