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APA Citation
Simsek‐Kiper, P. O., Jacob, P., Upadhyai, P., Taşkıran, Z. E., Guleria, V. S., Karaosmanoglu, B., Imren, G., Gocmen, R., Bhavani, G. S., Kausthubham, N., Shah, H., Utine, G. E., Boduroglu, K., & Girisha, K. M. (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. Human mutation, 43(12), 2116–2129. http://access.bl.uk/ark:/81055/vdc_100172220834.0x00002f