Varaico: Literature-Extracted Genetic Variants

Gene:ALDOA
Variant:p.A280V
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ALDOA

NM_184041.5:p.A280V

Associated Papers

A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis - case report.

Santoro L et al.

Italian Journal of Pediatrics, 2022

Aldolase A deficiency: Report of new cases and literature review.

Papadopoulos C et al.

Molecular Genetics and Metabolism Reports, 2021

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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."