Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.R368C
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BBS12

NM_152618.3:p.R368C

Associated Papers

EZH2 loss promotes gastric squamous cell carcinoma.

Zhang M et al.

Nature Communications, 2025

40595652 (PubMed )
Supplement: 41467_2025_61024_MOESM3_ESM.xlsx › mutation_gene_list

Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Zacchia M et al.

Journal of Nephrology, 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."