Varaico: Literature-Extracted Genetic Variants

Gene:ACLY
Variant:p.G395Splc
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ACLY

NM_001096.3:p.G395Splc

Associated Papers

Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.

Saheki T et al.

Molecular Genetics and Metabolism, 2004

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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."