Varaico: Literature-Extracted Genetic Variants

Gene:BBS4
Variant:p.Y171_I172insFs
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BBS4

NM_033028.5:p.Y171_I172insFs

Associated Papers

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.

Nasser F et al.

Genes, 2022

35886001 (PubMed )
Supplement: genes-13-01218-s001.zip › Supplementary_Tables_S1-S3.pdf

Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Bryant L et al.

Clinical Ophthalmology (auckland, N.z.), 2018

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