Varaico: Literature-Extracted Genetic Variants

Gene:EPS8L2
Variant:p.E165*
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EPS8L2

NM_022772.4:p.E165*

Associated Papers

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

Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review.

Elsayed O et al.

Molecular Genetics & Genomic Medicine, 2022

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