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SR538
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Disease Atlas
SR538
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Case
SR538
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AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Hidden
SR538
Change Format
Grid View
Download View
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Highlighted Images
Age at visit:
71 years
OD
OS
No Light Perception
No Light Perception
Pedigree
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Age at visit:
71 years
OD
OS
No Light Perception
No Light Perception
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OD
OS
No Light Perception
No Light Perception
Diagnosis & molecular findings
Disease
Gene
Allele 1 variant(s)
Allele 2 variant(s)
Inheritance mode
AR Retinitis Pigmentosa
TULP1
IVS14-6 C>A
Arg311Gln CGG>CAG
AR
Disease:
AR Retinitis Pigmentosa
Gene:
TULP1
Allele 1:
IVS14-6 C>A
Allele 2:
Arg311Gln CGG>CAG
Inheritance:
AR
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