Varaico: Literature-Extracted Genetic Variants

Gene:BBS7
Variant:p.N148H
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BBS7

NM_176824.3:p.N148H

Associated Papers

The Tip of the Iceberg: Genotype of Puerto Rican Pediatric Obesity.

Melendez-Montañez JM et al.

Genes, 2024

38674329 (PubMed )
Supplement: genes-15-00394-s001.zip › Table_S1.pdf

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

Lindstrand A et al.

American Journal of Human Genetics, 2016

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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."