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Search Results: 1 unique variant retrieved.
c.370G>A
p.Glu124Lys (78)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10484
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
7
No. of bases:
1
Structural Information
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