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227650.3
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Subject Details
Country
Lebanon
HPO Terms
Thrombocytopenia; Anemia; Preaxial polydactyly; Chromosomal breakage induced by crosslinking agents
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Sex
Male
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000135.4:c.2602-2A>G
2
Fanconi Anemia, Complementation Group A
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References
Farah et al. 2020
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