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Pathogenic gene mutations associated with DD‐I.
| Gene | Location | cDNA | Protein | Mutation class | Morphology of root | References |
|---|---|---|---|---|---|---|
| SMOC2 | Intron 1 | c.84 + 1G>T | Splice+1G>T | Splice site | Extremely short | Bloch-Zupan et al. (2011) |
| SMOC2 | Exon 1 | c.24G>A | p.Trp8Ter | nonsense | Short and blunt | Ruan and Duan (2022) |
| VPS4B | Intron 7 | IVS7+46C>G | Splice+46C>G | Splice site | Short, blunt and malformed | Yang et al. (2016b) |
| SSUH2 | Exon 2 | c.353C>A | p.(Pro118Gln) | Missense | Short, blunt and malformed | Xiong et al. (2017) |
