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266100.3
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Seizure
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001182.4:c.567_611del
2
Epilepsy, Pyridoxine Dependent
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References
Al-Shamsi et al. 2014
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