Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.R95S
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ASS1

NM_054012.4:p.R95S

Associated Papers

Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.

Diez-Fernandez C et al.

Journal of Medical Genetics, 2016

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.

Gao HZ et al.

Human Mutation, 2003

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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."