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Mutations on the Protein: P01112 From Positions: 57 To 66

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Swiss-Prot Polymorphism: VAR_006838
p.GLN61LEU
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_045979
p.GLN61LYS
N/A
N/A
N/A


Swiss-Prot Disease: VAR_045980
p.GLU63LYS
N/A
N/A
Congenital myopathy with excess of muscle spindles (CMEMS)


Swiss-Prot Disease: VAR_045978
p.THR58ILE
N/A
N/A
Faciocutaneoskeletal syndrome (FCSS)


OMIM Disease: 190020.0002
p.GLN61LYS
N/A
N/A
THYROID CARCINOMA, FOLLICULAR, SOMATIC||SPERMATOCYTIC SEMINOMA, SOMATIC, INCLUDED


OMIM Disease: 190020.0009
p.GLU63LYS
N/A
N/A
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES


OMIM Disease: 190020.0011
p.THR58ILE
N/A
N/A
COSTELLO SYNDROME






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