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Neuromusculaire ziekten
Motorneuron ziekten NEM13v16.1
41 genen
Genpanel dekking 15X: 97.3 %
41 genen
Genpanel dekking 15X: 97.3 %
NEM13v16.1
06-07-2023
PLEKHG5
TARDBP
DCTN1
REEP1
ALS2
DNAJB2
CHMP2B
HSPB3
SMN1
FIG4
GARS
HSPB1
ASAH1
SLC52A2
C9orf72
SIGMAR1
VCP
GLE1
SETX
OPTN
BSCL2
IGHMBP2
PRPH
ERBB3
TRPV4
ATXN2
HSPB8
ANG
VRK1
DYNC1H1
FUS
AARS
PFN1
PIP5K1C
SLC52A3
VAPB
SOD1
NEFH
UBQLN2
AR
ATP7A
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
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Motorneuron-ziekten NEM13v19.1
55 genen
Genpanel dekking 15X: 99.7 %
55 genen
Genpanel dekking 15X: 99.7 %
NEM13v19.1
06-07-2023
PLEKHG5
TARDBP
DCTN1
REEP1
SLC5A7
ALS2
ERBB4
TUBA4A
DNAJB2
CHMP2B
HSPB3
HEXB
MATR3
FBXO38
SQSTM1
FIG4
GARS
HSPB1
ASAH1
SLC52A2
SIGMAR1
VCP
EXOSC3
BICD2
GLE1
SETX
OPTN
ASCC1
BSCL2
IGHMBP2
RBM7
PRPH
HNRNPA1
ERBB3
TRPV4
EXOSC8
ANG
VRK1
WARS
DYNC1H1
SPG11
TRIP4
FUS
AARS
PFN1
PIP5K1C
SLC52A3
VAPB
SOD1
CHCHD10
NEFH
UBA1
UBQLN2
AR
ATP7A
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
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