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Mutations on the Protein: P08F94 From Positions: 2241 To 2444

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5
1
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Swiss-Prot Disease: VAR_066436
p.CYS2422ARG
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_018563
p.CYS2422GLY
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_066437
p.GLU2431VAL
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


dbSNP Polymorphism: rs76260483
p.ILE2364ASN
N/A
N/A
N/A


Swiss-Prot Disease: VAR_014056
p.ILE2331LYS
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_018562
p.ILE2303PHE
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)






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