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614862.1
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Subject Details
Country
United Arab Emirates
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000287.4:c.611C>G
2
Peroxisome Biogenesis Disorder 4A (Zellweger)
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Remarks
Patient with Zellweger syndrome
References
Al-Shamsi et al. 2014;
Ali et al. 2011
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