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Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate.

Yu Y, Alvarado R, Petty LE, Bohlender RJ, Shaw DM, Below JE, Bejar N, Ruiz OE, Tandon B, Eisenhoffer GT, Kiss DL, Huff CD, Letra A, Hecht JT
Hum Mol Genet. 2022 Jul 21;31(14):2348-2357. doi: 10.1093/hmg/ddac037. (Link opens in a new window) PubMed (Link opens in a new window) Article

Plasmids from Article

ID Plasmid Purpose
172596pCEP4-myc-PDGFRA-R914W_EGFP-PEST_reporterMammalian fluorescent (EGFP-PEST) reporter plasmid for PDGFRA-R914W mutant signaling.
172597pCEP4-myc-PDGFRA-K627R_EGFP-PEST_reporterMammalian fluorescent (EGFP-PEST) reporter plasmid for PDGFRA-K627R mutant signaling.
172598pCEP4-myc-PDGFRA-D842V_EGFP-PEST_reporterMammalian fluorescent (EGFP-PEST) reporter plasmid for PDGFRA-D842V mutant signaling.
172599pCEP4-myc-PDGFRA-D842V+R914W_EGFP-PEST_reporterMammalian fluorescent (EGFP-PEST) reporter plasmid for PDGFRA-D842V+R914W mutant signaling.
172600pCEP4-myc-PDGFRA-K627R+R914W_EGFP-PEST_reporterMammalian fluorescent (EGFP-PEST) reporter plasmid for PDGFRA-K627R+R914W mutant signaling.

Antibodies from Article