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Mutations on the Protein: P51798 From Positions: 765 To 805

6
4
0
2








Swiss-Prot Disease: VAR_021008
p.ARG767GLN
N/A
N/A
Osteopetrosis, autosomal recessive 4 (OPTB4)


Swiss-Prot Disease: VAR_064648
p.ARG767PRO
N/A
N/A
Osteopetrosis, autosomal recessive 4 (OPTB4)


Swiss-Prot Disease: VAR_017840
p.ARG767TRP
N/A
N/A
Osteopetrosis, autosomal recessive 4 (OPTB4)


Swiss-Prot Disease: VAR_017839
p.LEU766PRO
N/A
N/A
Osteopetrosis, autosomal recessive 4 (OPTB4)


OMIM Disease: 602727.0004
p.ARG767TRP
N/A
N/A
OSTEOPETROSIS, AUTOSOMAL DOMINANT 2


OMIM Disease: 602727.0003
p.LEU766PRO
N/A
N/A
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4






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