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267750.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_030582.4:c.3283C>T
4
Knobloch Syndrome 1
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Remarks
2 members of a family
References
Patel et al, 2018
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