Spinal Muscular Atrophy Distal, NGS


Genelist (48): AARS1, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CHCHD10, DCAF8, DCTN1, DNAJB2, DNMT1, DYNC1H1, EMILIN1, EXOSC3, EXOSC8, EXOSC9, FBXO38, FIG4, GAN, GARS1, GJB1, HARS1, HEXA, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, MEGF10, MORC2, PDK3, PLEKHG5, REEP1, SCO2, SETX, SIGMAR1, SLC5A7, SMN1, SMN2, SYT2, TBCE, TRPV4, UBA1, UBE3C, VAPB, VRK1, WARS1