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134934.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Seizure; Gastritis
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Sex
Male
Family History
Yes
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000142.5:c.749C>G
1
NA
FGFR3 Related Neurodevelopmental Disorder
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References
Mahfouz et al. 2020
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