Variant Classification Rules for Ornithine Transcarbamylase, N-Acetylglutamate Synthase, and Carbamylphosphate Synthetase 1
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Pdf Summary
Keywords
Urea cycle disorders
Ornithine Transcarbamylase
N-Acetylglutamate Synthase
Carbamylphosphate Synthetase 1
Genomic variants
Variant classification rules
Enzyme activity
Allele frequency
Biochemical testing
Genetic variations
Ljubica Caldovic (lcaldovic@childrensnational.org)

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