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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPART

Variant:p.L438V

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SPART

NM_015087.5:p.L438V

hg38:chr13:36314398 A>C

Associated Papers

Lysosomal damage sensing and lysophagy initiation by SPG20-ITCH.

Gahlot P et al.

Molecular Cell, 2024

38503285 (PubMed )

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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."