Functional filter for whole genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5kb from coding DN
Date
2023-11-02
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Xiao, S, Kai, Z, Murphy, D, Li, D, Patel, D, Bielowka, A, Bernabeu-Herrero, M E, Abdulmogith, A, Mumford, A D, Westbury, S, Aldred, M A, Vargesson, N, Caulfield, M J, Genomics England Research Consortium & Shovlin, C L 2023, 'Functional filter for whole genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5kb from coding DN', American Journal of Human Genetics, vol. 110, no. 11, pp. 1903-1918. https://doi.org/10.1016/j.ajhg.2023.09.005