Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.R363W
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PC

NM_001040716.2:p.R363W

Associated Papers

Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.

Lin Y et al.

Bmc Medical Genetics, 2019

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

Diez-Fernandez C et al.

Human Mutation, 2017

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

Engel K et al.

Human Mutation, 2009

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