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610832.1
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Subject Details
Country
Lebanon
HPO Terms
Absent thumb; Absent radius; Chromosomal breakage induced by crosslinking agents; Nephroblastoma
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_024675.4:c.3350+4A>G
2
Fanconi Anemia, Complementation group N
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References
Farah et al. 2020
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