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Search Results: 1 unique variant retrieved.
c.233T>C
p.Phe78Ser (32)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6470
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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