Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.H339L
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BBS1

NM_024649.5:p.H339L

Associated Papers

A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report.

Focșa IO et al.

Biomedical Reports, 2021

Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.

Manara E et al.

Italian Journal of Pediatrics, 2019

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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."