Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.R100C
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ASS1

NM_054012.4:p.R100C

Associated Papers

Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.

Daou M et al.

Molecular Genetics & Genomic Medicine, 2023

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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."