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Mutations on the Protein: P12109 From Positions: 103 To 154

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2
1
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Swiss-Prot Disease: VAR_013580
p.LYS121ARG
N/A
N/A
Bethlem myopathy (BM)


dbSNP Polymorphism: rs11553519
p.SER116ASN
N/A
N/A
N/A


Swiss-Prot Disease: VAR_058213
p.SER116ASN
N/A
N/A
Bethlem myopathy (BM)


OMIM Disease: 120220.0005
p.LYS121ARG
N/A
N/A
BETHLEM MYOPATHY






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