PMID: 35499084

CRISPR/Cas therapeutic strategies for autosomal dominant disorders.

The Journal of clinical investigation
Caruso, Salvatore Marco SM, Quinn, Peter Mj PM, da Costa, Bruna Lopes BL, Tsang, Stephen H SH
2022-05-02

5 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
3-129247904-T-C RHO c.328T>C p.C110R Missense 1/5 -
1-55518410-A-T PCSK9 c.745A>T p.S249C Missense 5/12 -
17-39739503-C-T KRT14 c.1258G>A p.E420K Missense 6/8 -
5-135382096-G-A TGFBI c.371G>A p.R124H Missense 4/17 -
3-129247644-C-A RHO c.68C>A p.P23H Missense 1/5 -