EXOC6B

Publications

Campos-Xavier B et al. Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type. Am J Med Genet A. 2018;176(12):2934-2935. PMID: 30284759.

Mei K, Guo W. The exocyst complex. Curr Biol. 2018;28(17):R922-R925. PMID: 30205058.

Girisha KM et al. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. Eur J Hum Genet. 2016;24(8):1206-1210. PMID: 26669664.

Simsek-Kiper PO et al. 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;43(12):2116-2129. PMID: 36150098.

Wu B, Guo W. The Exocyst at a Glance. J Cell Sci. 2015;128(16):2957-2964. PMID: 26240175.