Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 8, m - Nucleotide

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De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures. [Mov Disord. 2024]
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.
Keller Sarmiento IJ, Bustos BI, Blackburn J, Hac NEF, Ruzhnikov M, Monroe M, Levy RJ, Kinsley L, Li M, Silani V, et al. Mov Disord. 2024 Jul; 39(7):1231-1236. Epub 2024 Apr 4.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing. [Neuro Oncol. 2023]
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing.
Demirdizen E, Al-Ali R, Narayanan A, Sun X, Varga JP, Steffl B, Brom M, Krunic D, Schmidt C, Schmidt G, et al. Neuro Oncol. 2023 Jun 2; 25(6):1031-1043.
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. [Am J Hum Genet. 2022]
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Lu S, Ma M, Mao X, Bacino CA, Jankovic J, Sutton VR, Bartley JA, Wang X, Rosenfeld JA, Beleza-Meireles A, et al. Am J Hum Genet. 2022 Oct 6; 109(10):1932-1943.

RefSeq alternative splicing
See 13 reference mRNA sequence splice variants for the FRMD5 gene.
RefSeq protein product
See the reference protein sequence for FERM domain-containing protein 5 isoform 8 (NP_001309880.1).

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Nucleotide