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162200.5
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Subject Details
Country
United Arab Emirates
HPO Terms
Multiple cafe-au-lait spots; Plexiform neurofibroma
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Sex
Male
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001042492.3:c.5347del
1
Neurofibromatosis, Type I
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References
Ben-Salem et al. 2014
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