Varaico: Literature-Extracted Genetic Variants

Gene:BBS4
Variant:p.R295Q
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BBS4

NM_033028.5:p.R295Q

Associated Papers

Monogenic etiologies in a cohort of early onset obesity: a real-world experience from Belgium.

Harvengt J et al.

Frontiers in Endocrinology, 2025

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.

Kousi M et al.

Nature Genetics, 2020

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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."