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Mutations on the Protein: P13498 From Positions: 117 To 127

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Swiss-Prot Disease: VAR_060581
p.ALA125THR
N/A
N/A
Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)


Swiss-Prot Disease: VAR_060580
p.ALA124VAL
N/A
N/A
Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)


Swiss-Prot Disease: VAR_005125
p.SER118ARG
N/A
N/A
Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)


OMIM Disease: 608508.0012
p.ALA125THR
N/A
N/A
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE


OMIM Disease: 608508.0004
p.SER118ARG
N/A
N/A
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE






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