Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.R56K
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BBS5

NM_152384.3:p.R56K

Associated Papers

Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants.

Belenska-Todorova L et al.

Cells, 2025

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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."