Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.Y359D
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ASS1

NM_054012.4:p.Y359D

Associated Papers

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

Diez-Fernandez C et al.

Human Mutation, 2017

Citrullinaemia type I: a common mutation in the Pacific Island population.

Glamuzina E et al.

Journal of Paediatrics and Child Health, 2011

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.

Engel K et al.

Human Mutation, 2009

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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."