Varaico: Literature-Extracted Genetic Variants

Gene:BBS7
Variant:p.Q283_M284Splc
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BBS7

NM_176824.3:p.Q283_M284Splc

Associated Papers

Comprehensive clinical and genetic characterization of Bardet-Biedl Syndrome: insights from the largest Turkish cohort.

Demir Ş et al.

European Journal of Pediatrics, 2025

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.

Demir Ş et al.

Clinical Genetics, 2025

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."