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Ataxias |
Painel por Sequenciamento de Próxima Geração |
ABHD12, ACO2, AFG3L2, ANO10, APOB, APTX, ATCAY, ATM, ATP8A2, BEAN1, CACNA1A, CACNA1G, CACNB4, CCDC88C, CLCN2, CLN5, COQ2, COQ8A, CYP27A1, DNMT1, ELOVL4, FGF14, FLVCR1, FXN, GOSR2, GRM1, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, LAMA1, MRE11, MTTP, NOP56, NPC1, NPC2, PDSS1, PDSS2, PDYN, PEX7, PHYH, PMPCA, PNKP, PNPLA6, POLG, PRKCG, PTF1A, RUBCN, SACS, SCN2A, SETX, SIL1, SLC1A3, SPG7, SPTBN2, SYNE1, SYT14, TDP1, TGM6, TPP1, TTBK2, TTPA, TWNK, TXN2, VLDLR, WDR73, WFS1, WWOX |
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Glomeruloesclerose Focal Segmentar |
Painel por Sequenciamento de Próxima Geração |
ACTN4, ANLN, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, FAT1, INF2, ITGA3, ITGB4, KANK1, KANK2, KANK4, LAMB2, LMX1B, MYO1E, NEIL1, NEXMIF, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SMARCAL1, TRPC6, TTC21B, WDR73, WT1, XPO5 |
