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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VPS53

Variant:p.E46G

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VPS53

NM_001128159.3:p.E46G

hg38:chr17:710564 T>C

Associated Papers

Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods.

Kim SY et al.

American Journal of Medical Genetics. Part A, 2025

39513527 (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."