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Neuromusculaire ziekten
Congenitale myopathie NEM04v16.1
19 genen
Genpanel dekking 15X: 98.3 %
19 genen
Genpanel dekking 15X: 98.3 %
NEM04v16.1
06-07-2023
SEPN1
TPM3
ACTA1
BIN1
NEB
TTN
MEGF10
TPM2
TRIM32
MYBPC3
CNTN1
MYH7
CFL2
KBTBD13
MYH2
DNM2
RYR1
TNNT1
MTM1
NPHP4
WNT4
SEPN1
LRIG2
NOTCH2
TPM3
CACNA1S
LMOD1
REN
ACTA1
SIX2
NPHP1
PAX8
BIN1
KYNU
ZEB2
NEB
KLHL41
MLTK
TTN
SPEG
KLHL40
LMOD3
ROBO2
NPHP3
LPP
SLIT2
TBC1D1
MEGF10
SOX17
TPM2
TRIM32
TMEM8C
PTPLA
RET
MYPN
PAX2
HRAS
WT1
LRP4
MYBPC3
CNTN1
HNRNPA1
MYH7
CFL2
SIX1
KBTBD13
STRA6
TRAP1
MYH11
UMOD
SALL1
MYH2
DNM2
RYR1
SPTBN4
SIX5
TNNT1
MKKS
SALL4
MYO18B
ZIC3
MTM1
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
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Congenitale myopathie NEM04v19.1
63 genen
Genpanel dekking 15X: 98.9 %
63 genen
Genpanel dekking 15X: 98.9 %
NEM04v19.1
06-07-2023
SEPN1
TPM3
ACTA1
BIN1
NEB
TTN
MEGF10
TPM2
TRIM32
MYBPC3
CNTN1
MYH7
CFL2
KBTBD13
MYH2
DNM2
RYR1
TNNT1
MTM1
NPHP4
WNT4
SEPN1
LRIG2
NOTCH2
TPM3
CACNA1S
LMOD1
REN
ACTA1
SIX2
NPHP1
PAX8
BIN1
KYNU
ZEB2
NEB
KLHL41
MLTK
TTN
SPEG
KLHL40
LMOD3
ROBO2
NPHP3
LPP
SLIT2
TBC1D1
MEGF10
SOX17
TPM2
TRIM32
TMEM8C
PTPLA
RET
MYPN
PAX2
HRAS
WT1
LRP4
MYBPC3
CNTN1
HNRNPA1
MYH7
CFL2
SIX1
KBTBD13
STRA6
TRAP1
MYH11
UMOD
SALL1
MYH2
DNM2
RYR1
SPTBN4
SIX5
TNNT1
MKKS
SALL4
MYO18B
ZIC3
MTM1
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-