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613216.G.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Visual impairment
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Sex
Unknown
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001252020.1:c.1577T>A
4
Night Blindness, Congenital Stationary, Type 1C
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Remarks
2 members of a family
References
Patel et al, 2018
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