Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.I392_N393del1
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ASS1

NM_054012.4:p.I392_N393del1

Associated Papers

99 Chinese ASS1 carriers: Genetics, metabolism, and citrulline levels.

Cen Z et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026

A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

Wang W et al.

Bmc Medical Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."