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Mutations on the Protein: Q96SN8 From Positions: 1514 To 1609

4
0
2
2


dbSNP Polymorphism: rs16909747
p.ARG1607SER
N/A
N/A


dbSNP Polymorphism: rs4837768
p.VAL1540LEU
N/A
N/A


OMIM Disease: 608201.0005
p.ARG1558TER
N/A
N/A
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE


OMIM Disease: 608201.0004
p.GLU1516TER
N/A
N/A
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE






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