Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.S18insFs
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BBS5

NM_152384.3:p.S18insFs

Associated Papers

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.

Karam A et al.

International Journal of Molecular Sciences, 2023

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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."