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. 2018 Sep 4;26(12):1819–1823. doi: 10.1038/s41431-018-0243-y

Table 1.

KIF11 variants associated with FEVR

Variant (cDNA) Variant (protein) Reference
c.131_132dup p.(P45Ifs*92) Hu et al. [5]
c.139C>T p.(R47*) Robitaille et al. [4]
c.511C>G p.(L171V) Li et al. [6]
c.652dup p.(A218Gfs*16) Robitaille et al. [4]
c.661A>G p.(R221G) Robitaille et al. [4]
c.790-2A>C n.a. (splicing variant) Li et al. [6]
c.790-1G>T n.a. (splicing variant) Robitaille et al. [4]
c.1408G>T p.(E470*) Robitaille et al. [4]
c.1573C>T p.(Q525*) Li et al. [6]
c.1830_1833del p.(E610Dfs*3) Rao et al. [9]
c.2230C>T p.(Q744*) Hu et al. [5]
c.2524C>T p.(Q842*) Li et al. [6]
c.2717del p.(L906*) This manuscript
c.2807C>G p.(S936*) Li et al. [6]
c.2863C>T p.(Q955*) Hu et al. [5]
c.2952_2955del p.(Q985Ifs*6) Hu et al. [5]
c.3073A>G p.(R1025G) Li et al. [6]