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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLXNA2

Variant:p.S152_H153del0

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PLXNA2

NM_025179.4:p.S152_H153del0

hg38:chr1:208217463 TGTGGGA>T

Associated Papers

Case Report: Novel ADAMTSL2 compound heterozygous mutations in geleophysic dysplasia with bilateral glaucoma and keratoconus-like corneal ectasia.

Lee CL et al.

Frontiers in Genetics, 2026

41664703 (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."