Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.A466T
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BBS1

NM_024649.5:p.A466T

Associated Papers

[Ophthalmological care of patients with Bardet-Biedl syndrome].

Mahler EA et al.

Die Ophthalmologie, 2026

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."