Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.M347delFs
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BBS1

NM_024649.5:p.M347delFs

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

37333983 (PubMed )
Supplement: DataSheet1.pdf

Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

Doucette LP et al.

European Journal of Human Genetics : Ejhg, 2021

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

Mykytyn K et al.

American Journal of Human Genetics, 2003

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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."