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. 2023 Jun 20;14(6):469–476. doi: 10.1159/000531069

Table 2.

Mutations reported to date in WNT10B gene

Publication WNT10B variants
Ugur and Tolun, 2008 Homozygous c.994C>T, p.(Arg332Trp)
Aziz et al., 2014 Homozygous c.1165_1168delAAGT
Homozygous c.300_306dupAGGGCGG, p.(Leu103Argfs*53)
Khan et al., 2012 Homozygous c.986C>G, p.(Thr329Arg)
Blattner et al., 2010 Homozygous c.458_461dupAGCA, p.(Asp155Alafs*47)
Kantaputra et al., 2018 Homozygous c.695_697delACA, p.(Asn232del)
Monies et al., 2017 Homozygous c.338-1G>C
Meng et al., 2017 Presumably compound heterozygous c.[661C>T; ?;986C>A], p.(Arg221Trp);?;(Thr329Lys)
Ullah et al., 2018 Homozygous c.460C>G, p.(Gln154*)
Brunelle et al., 2019 Homozygous c.817delG
Compound heterozygous c.[746G>T]; [817dupG]
Homozygous c.949T>A, p.(Phe317Ile)
Bilal et al., 2020 Homozygous c.338G>A, p.Gly113Asp*
Homozygous c.884-896delTCCAGCCCCGTCT, p.(Phe295Cysfs*87)