Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.G264S
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ASS1

NM_054012.4:p.G264S

Associated Papers

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

Cen Z et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Guo Y et al.

Orphanet Journal of Rare Diseases, 2023

37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1
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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."