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Mutations on the Protein: P08F94 From Positions: 407 To 611

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9
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Swiss-Prot Polymorphism: VAR_018529
p.ARG488PRO
N/A
N/A
N/A


Swiss-Prot Disease: VAR_018530
p.ARG496PRO
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Polymorphism: VAR_018526
p.GLU457ASP
N/A
N/A
N/A


Swiss-Prot Disease: VAR_066421
p.GLY466GLU
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_066422
p.GLY470VAL
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_018527
p.ILE473SER
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_066423
p.ILE539THR
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Polymorphism: VAR_018531
p.THR579MET
N/A
N/A
N/A


Swiss-Prot Disease: VAR_018528
p.TYR486HIS
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


OMIM Disease: 606702.0007
p.ARG496TER
N/A
N/A
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE






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