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Mutations on the Protein: P21333 From Positions: 0 To 132

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4
0
3






Swiss-Prot Disease: VAR_022734
p.ALA39GLY
N/A
N/A
Periventricular nodular heterotopia 4 (PVNH4)


Swiss-Prot Disease: VAR_031306
p.ALA128VAL
N/A
N/A
Periventricular nodular heterotopia 4 (PVNH4)


Swiss-Prot Disease: VAR_015699
p.GLU82VAL
N/A
N/A
Periventricular nodular heterotopia 1 (PVNH1)


Swiss-Prot Disease: VAR_031305
p.MET102VAL
N/A
N/A
Periventricular nodular heterotopia 1 (PVNH1)


OMIM Disease: 300017.0019
p.ALA39GLY
N/A
N/A
HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT


OMIM Disease: 300017.0021
p.ALA128VAL
N/A
N/A
HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT


OMIM Disease: 300017.0008
p.GLU82VAL
N/A
N/A
HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT


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