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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VPS53

Variant:p.R506Q

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VPS53

NM_001128159.3:p.R506Q

hg38:chr17:562542 C>T

Associated Papers

A rare inherited homozygous missense variant in PLA2G6 influences susceptibility to infantile neuroaxonal dystrophy: a case report.

Lyu Y et al.

Translational Pediatrics, 2024

38590380 (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."