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Mutations on the Protein: NP_000162 From Positions: 269 To 292

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OMIM Disease: 138491.0002
p.ARG271GLN
N/A
N/A
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT


OMIM Disease: 138491.0001
p.ARG271LEU
N/A
N/A
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT


OMIM Disease: 138491.0006
p.LYS276GLU
N/A
N/A
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT


OMIM Disease: 138491.0004
p.TYR279CYS
N/A
N/A
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT






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