Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.R274C
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VSX2

NM_182894.3:p.R274C

Associated Papers

New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.

Spirito G et al.

Npj Genomic Medicine, 2026

41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6

Rare heterozygous missense variants in VSX2 are associated with retinal detachment.

Brock DC et al.

Plos Genetics, 2026

41632798 (PubMed )
Supplement: pgen.1012027.s017.xlsx › S12_Table_-_VSX2_QVs

Three-dimensional genomic mapping of human pancreatic tissue reveals striking multifocality and genetic heterogeneity in precancerous lesions.

Braxton AM et al.

Biorxiv : the Preprint Server for Biology, 2023

36747709 (PubMed )
Supplement: media-5.xlsx › 104
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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."