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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BBS5

Variant:p.Q309*

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BBS5

NM_152384.3:p.Q309*

hg38:chr2:169504481 C>T

Associated Papers

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.

Gee HY et al.

Kidney International, 2014

24257694 (PubMed )

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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."