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217080.2
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Subject Details
Country
Palestine
HPO Terms
Pendular nystagmus; Photophobia; Nyctalopia; Visual impairment; Amelogenesis Imperfecta; Macular degeneration; Macular coloboma; Chorioretinal atrophy
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_020184.3:c.599C>A
NA
Jalili Syndrome
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Remarks
Singleton C' in the publication
References
Jalili, 2010
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