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Detailed info
Owner:
admin
Position:
intron 7
HAEUID:
98
Nucleotide change
Protein change
Traditional:
14252T>A
Traditional:
Splicing defect
HUGO:
g.15434T>A
HUGO:
p.-
CDS:
c.1249+2T>A
Effect:
pathogenic
Reference:
Kawachi Y et al (J Invest Dermatol. 1998 May;110(5):837-9.)
Family history:
unknown
No. of cases:
0
Notes:
ND
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(registered labs only)