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Mutations on the Protein: Q14CZ8 From Positions: 83 To 104

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Swiss-Prot Disease: VAR_065854
p.ARG98CYS
N/A
N/A
Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A)


Swiss-Prot Disease: VAR_065852
p.ARG92GLN
N/A
N/A
Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A)


Swiss-Prot Disease: VAR_065853
p.ARG92TRP
N/A
N/A
Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B)


Swiss-Prot Disease: VAR_065850
p.GLY89ASP
N/A
N/A
Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B)


Swiss-Prot Disease: VAR_065851
p.GLY89SER
N/A
N/A
Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B)


OMIM Disease: 611642.0005
p.ARG98CYS
N/A
N/A
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A


OMIM Disease: 611642.0003
p.ARG92GLN
N/A
N/A
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A


OMIM Disease: 611642.0008
p.ARG92TRP
N/A
N/A
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,||WITH OR WITHOUT MENTAL RETARDATION


OMIM Disease: 611642.0007
p.GLY89ASP
N/A
N/A
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,||WITH MENTAL RETARDATION


OMIM Disease: 611642.0006
p.GLY89SER
N/A
N/A
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,||WITH OR WITHOUT MENTAL RETARDATION






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