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SR2341
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StoneRounds
Disease Atlas
SR2341
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Case
SR2341
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Ladder View
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Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR2341
Change Format
Ladder View
Download View
Student Mode
Best Disease (IIB)
Male
Male
Visit at age: 11 years
Fundus Photography - Right -
20/20 sc
Exemplar
Expanded OCT Stack
×
Fundus Photography - Left -
20/25 +2
Exemplar
Expanded OCT Stack
×
Case Level Images
Diagnosis & molecular findings
Disease
Gene
Allele 1 variant(s)
Allele 2 variant(s)
Inheritance mode
Best Disease
BEST1
Arg141His CGC>CAC
Pro152Ala CCC>GCC
AR
Disease:
Best Disease
Gene:
BEST1
Allele 1:
Arg141His CGC>CAC
Allele 2:
Pro152Ala CCC>GCC
Inheritance:
AR
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