Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.S2869*
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EYS

NM_001142800.2:p.S2869*

Associated Papers

Rare variants and founder effect in the Beauce region of Quebec.

Gagnon M et al.

Communications Biology, 2025

40781540 (PubMed )
Supplement: 42003_2025_8630_MOESM2_ESM.xlsx › Beauce_variants

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.

Villanueva-Mendoza C et al.

Genes, 2021

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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."