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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAGE3

Variant:p.V130G

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LAGE3

NM_006014.5:p.V130G

hg38:chrX:154477987 A>C

Associated Papers

Two brothers presented with rare clinical characteristics with a novel LAGE3 variant: a case report and literature review.

Wei J et al.

Bmc Pediatrics, 2025

40490705 (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."