Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.T389P
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ASS1

NM_054012.4:p.T389P

Associated Papers

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.

Maier EM et al.

Journal of Inherited Metabolic Disease, 2023

Identification of three novel mutations in fourteen patients with citrullinemia type 1.

Kose E et al.

Clinical Biochemistry, 2017

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."