Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.A299D
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ASS1

NM_054012.4:p.A299D

Associated Papers

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

Cen Z et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026

Evaluating a Novel Newborn Screening Methodology: Combined Genetic and Biochemical Screenings.

Yu B et al.

Archives of Medical Research, 2024

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.

Diez-Fernandez C et al.

Human Mutation, 2017

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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."