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266920.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_014714.4:c.1990G>A
6
Short-Rib Thoracic Dysplasia 9 with or without Polydactyly
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Remarks
3 family members
References
Patel et al, 2018
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