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614465.4
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Subject Details
Country
Egypt
HPO Terms
Oculomotor apraxia
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Sex
Male
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_016464.5:c.376G>A
2
Joubert Syndrome 16
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References
Lee et al. 2012
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