Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.C426Y
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BBS12

NM_152618.3:p.C426Y

Associated Papers

Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members.

Simičić Majce A et al.

Frontiers in Pediatrics, 2023

Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.

Bekheirnia N et al.

Kidney360, 2021

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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."