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227650.2
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Subject Details
Country
Lebanon
HPO Terms
Thrombocytopenia; Anemia; Multiple cafe-au-lait spots; Absent thumb; Absent radius; Acute myeloid leukemia; Chromosomal breakage induced by crosslinking agents
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000135.4:c.4261-19_4261-12del
1
Fanconi Anemia, Complementation Group A
NM_000135.4:c.2852G>A
1
Fanconi Anemia, Complementation Group A
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References
Farah et al. 2020
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