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242860.3
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Subject Details
Country
Lebanon
HPO Terms
Chromosome breakage
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Sex
Male
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006892.3:c.2308A>G
2
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
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References
Brun et al. 2011
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