Additional file 2 of Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: a case report
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Additional file 2. Clinical Exome Sequencing (SOPHiA) of the patient 1. Table summarizes genes analysed and the coverage for each exon. No pathogenic/likely pathogenic variants were identified in candidate genes (WNT10A, MSX1, LRP6, WNT10B, PAX9, EDA, AXIN2, EDARADD, FGFR1, IRF6) or in genes included in the virtual panel generated by SOPHiA Software (SOPHiA-DDM-v4) using the following HPO terms: oligodontia; dental anomalies (virtual panel: ANKRD11; AXIN2; BCOR; CCBE1; CLDN1; EDA; EDARADD; FAT4; KCNJ5; POLR3A; RNU4ATAC; FGFR1; HOXD13; IRF6; KCNJ2; LRP6; LTBP3; MSX1; NAA10; PAX9; POLR1C; POLR3B; PORCN; PTHLH; SATB2; SH3BP2; SLC29A3; TGFA; TP63; WNT10A).
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figshare
创建时间:
2020-05-10



