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Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Among authors: grant bd. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33954647
CED-10/Rac1 regulates endocytic recycling through the RAB-5 GAP TBC-2.
Sun L, Liu O, Desai J, Karbassi F, Sylvain MA, Shi A, Zhou Z, Rocheleau CE, Grant BD. Sun L, et al. Among authors: grant bd. PLoS Genet. 2012;8(7):e1002785. doi: 10.1371/journal.pgen.1002785. Epub 2012 Jul 12. PLoS Genet. 2012. PMID: 22807685 Free PMC article.
150 results