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Mutations on the Protein: NP_000162 From Positions: 247 To 269

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OMIM Disease: 138491.0005
p.GLN266HIS
N/A
N/A
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT


OMIM Disease: 138491.0007
p.PRO250THR
N/A
N/A
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT


OMIM Disease: 138491.0015
p.SER267ASN
N/A
N/A
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT


OMIM Disease: 138491.0011
p.VAL260MET
N/A
N/A
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT






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