Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.Q227_S228Splc
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BBS5

NM_152384.3:p.Q227_S228Splc

Associated Papers

Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey.

Gumus E et al.

Annals of Human Genetics, 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."