Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.T119I
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ASS1

NM_054012.4:p.T119I

Associated Papers

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

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

Diez-Fernandez C et al.

Journal of Medical Genetics, 2016

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."