Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.E283fs
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ASS1

NM_054012.4:p.E283fs

Associated Papers

Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.

Guo D et al.

Frontiers in Genetics, 2025

40421383 (PubMed )
Supplement: Table1.xlsx › Table_S3

Asymptomatic ASS1 carriers with high blood citrulline levels.

Chen HA et al.

Molecular Genetics & Genomic Medicine, 2022

Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations.

Xiong M et al.

Frontiers in Pediatrics, 2022

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