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- W2980698519 abstract "The Renpenning syndrome spectrum is a rare X-linked mental retardation syndrome characterized by intellectual disability, microcephaly, low stature, lean body and hypogonadism. Mutations in the polyglutamine tract binding protein 1 (PQBP1) locus are causative for disease. Here, we describe the generation of an iPSC line from a patient mutated in the polar amino acid-rich domain of PQBP1 resulting in a C-terminal truncated protein (c.459_462 delAGAG, type p.R153fs193X)." @default.
- W2980698519 created "2019-10-25" @default.
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- W2980698519 date "2019-12-01" @default.
- W2980698519 modified "2023-09-30" @default.
- W2980698519 title "Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A)" @default.
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- W2980698519 doi "https://doi.org/10.1016/j.scr.2019.101592" @default.
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