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604391.1
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Subject Details
Country
Saudi Arabia
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_005591.4:c.630G>C
2
Ataxia-Telangiectasia-Like Disorder 1
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Remarks
Patient suspected of neuronal ceroid lipofuscinosis
References
Monies et al. 2017
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