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Mutations on the Protein: Q15392 From Positions: 464 To 490

3
1
0
2


Swiss-Prot Disease: VAR_012735
p.TYR471SER
N/A
N/A
Desmosterolosis (DESMOS)


OMIM Disease: 606418.0006
p.GLU480LYS
N/A
N/A
DESMOSTEROLOSIS


OMIM Disease: 606418.0001
p.TYR471SER
N/A
N/A
DESMOSTEROLOSIS






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