Homo sapiens exocyst complex component 6B (EXOC6B), transcript variant - Nucleotide

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EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity. [GeneReviews(®). 1993]
EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity.
Bhavani GS, Singh S, Girisha KM. GeneReviews(®). 1993-2025. 2023 May 25
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.
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3. [Hum Mutat. 2022]
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, et al. Hum Mutat. 2022 Dec; 43(12):2116-2129. Epub 2022 Oct 8.

RefSeq alternative splicing
See 14 reference mRNA sequence splice variants for the EXOC6B gene.
RefSeq protein product
See the reference protein sequence for exocyst complex component 6B isoform 6 (NP_001308663.1).

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Nucleotide