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Mutations on the Protein: P51798 From Positions: 523 To 564

4
3
0
1











Swiss-Prot Disease: VAR_064643
p.ARG526GLN
N/A
N/A
Osteopetrosis, autosomal recessive 4 (OPTB4)


Swiss-Prot Disease: VAR_021004
p.ARG526TRP
N/A
N/A
Osteopetrosis, autosomal recessive 4 (OPTB4)


Swiss-Prot Disease: VAR_064644
p.LEU549PRO
N/A
N/A
Osteopetrosis, autosomal recessive 4 (OPTB4)


OMIM Disease: 602727.0001
p.GLN555TER
N/A
N/A
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4






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