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162200.12
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Subject Details
Country
Lebanon
HPO Terms
Neurofibromas; Imbalanced hemoglobin synthesis
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001042492.3:c.7317dup
1
Neurofibromatosis, Type I
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References
Jalkh et al. 2019
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