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Mutations on the Protein: NP_001447 From Positions: 0 To 132

3
0
0
3






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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