Varaico: Literature-Extracted Genetic Variants

Gene:BBS4
Variant:p.K369Splc
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BBS4

NM_033028.5:p.K369Splc

Associated Papers

The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.

De Geer K et al.

Acta Ophthalmologica, 2025

39643591 (PubMed )
Supplement: AOS-103-327-s002.xlsx › cohort_data
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