Varaico: Literature-Extracted Genetic Variants

Gene:ATRNL1
Variant:p.V483A
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ATRNL1

NM_207303.4:p.V483A

Associated Papers

Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report.

Ma M et al.

Frontiers in Pediatrics, 2025

GBA1 Gene Mutations in α-Synucleinopathies-Molecular Mechanisms Underlying Pathology and Their Clinical Significance.

Granek Z et al.

International Journal of Molecular Sciences, 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."