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Mutations on the Protein: P52732 From Positions: 211 To 264

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2
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Swiss-Prot Disease: VAR_067830
p.ARG234CYS
N/A
N/A
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)


Swiss-Prot Disease: VAR_067831
p.SER235CYS
N/A
N/A
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)


OMIM Disease: 148760.0006
p.SER235CYS
N/A
N/A
MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL||RETARDATION






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