Varaico: Literature-Extracted Genetic Variants

Gene:SDCCAG8
Variant:p.R247Splc
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SDCCAG8

NM_006642.5:p.R247Splc

Associated Papers

Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome.

McEntee KE et al.

Biorxiv : the Preprint Server for Biology, 2025

41279107 (PubMed )
Supplement: NIHPP2025.10.15.682674v1-supplement-1.pdf
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