Varaico: Literature-Extracted Genetic Variants

Gene:BBS9
Variant:p.E243G
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BBS9

NM_198428.3:p.E243G

Associated Papers

Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.

Lähteenoja L et al.

The British Journal of Ophthalmology, 2025

40571344 (PubMed )
Supplement: bjo-109-8-s002.xlsx › P_or_LP_variants_

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Germline_SNPs
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