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Mutations on the Protein: Q03468 From Positions: 1269 To 1344

4
2
1
1


Swiss-Prot Polymorphism: VAR_016307
p.GLY1322VAL
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_016306
p.VAL1308LEU
N/A
N/A
N/A


dbSNP Polymorphism: rs4253219
p.GLY1322VAL
N/A
N/A
N/A


OMIM Disease: 609413.0015
p.ARG1288TER
N/A
N/A
CEREBROOCULOFACIOSKELETAL SYNDROME 1






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