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Mutations on the Protein: Q03468 From Positions: 970 To 1045

5
4
0
1



Swiss-Prot Polymorphism: VAR_036023
p.ARG1038THR
N/A
N/A
N/A


Swiss-Prot Disease: VAR_063515
p.LEU987PRO
N/A
N/A
Cerebro-oculo-facio-skeletal syndrome 1 (COFS1)


Swiss-Prot Disease: VAR_001221
p.PRO1042LEU
N/A
N/A
Cockayne syndrome B (CSB)


Swiss-Prot Polymorphism: VAR_016304
p.TYR1002CYS
N/A
N/A
N/A


OMIM Disease: 609413.0013
p.LEU987PRO
N/A
N/A
CEREBROOCULOFACIOSKELETAL SYNDROME 1






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