Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.E298K
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ASS1

NM_054012.4:p.E298K

Associated Papers

A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

Park KJ et al.

Annals of Laboratory Medicine, 2016

27578510 (PubMed )
Supplement: alm-36-561-s006.pdf

Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I.

Woo HI et al.

Clinical Biochemistry, 2013

High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations.

Lee BH et al.

Molecular Genetics and Metabolism, 2013

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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."