Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC3
Variant:p.V23A
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EXOSC3

NM_016042.4:p.V23A

Associated Papers

Autophagy-related proteomics reveals lysosomal alterations linked to C19orf12 mutations and candidate biomarkers in MPAN patients' fibroblasts.

Pakula B et al.

Neurobiology of Disease, 2026

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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."