Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.R95S
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BBS10

NM_024685.4:p.R95S

Associated Papers

Modelling renal defects in Bardet-Biedl syndrome patients using human iPS cells.

Williams J et al.

Frontiers in Cell and Developmental Biology, 2023

Induction of Neural Crest Stem Cells From Bardet-Biedl Syndrome Patient Derived hiPSCs.

Barrell WB et al.

Frontiers in Molecular Neuroscience, 2019

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Scheidecker S et al.

American Journal of Ophthalmology, 2015

VaRank: a simple and powerful tool for ranking genetic variants.

Geoffroy V et al.

Peerj, 2015

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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."