Varaico: Literature-Extracted Genetic Variants

Gene:BBS4
Variant:p.Q58*
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BBS4

NM_033028.5:p.Q58*

Associated Papers

Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.

Elaraby NM et al.

Molecular and Cellular Pediatrics, 2025

Characterizing the morbid genome of ciliopathies.

Shaheen R et al.

Genome Biology, 2016

27894351 (PubMed )
Supplement: 13059_2016_1099_MOESM2_ESM.xlsx › Sheet1
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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."