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207900.4
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Subject Details
Country
Saudi Arabia
HPO Terms
Elevated plasma citrulline
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000048.4:c.1143+5G>C
2
NA
Argininosuccinic Aciduria
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References
Imtiaz et al. 2010
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