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207900.12
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Subject Details
Country
Arab
HPO Terms
Hyperammonemia
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000048.4:c.346C>T
2
NA
Argininosuccinic Aciduria
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Remarks
'Patient 894' in the publication
References
Linnebank et al. 2002
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