Varaico: Literature-Extracted Genetic Variants

Gene:BBS2
Variant:p.V687Splc
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BBS2

NM_031885.5:p.V687Splc

Associated Papers

Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report.

Li M et al.

The Journal of International Medical Research, 2024

Ocular Characteristics of Patients With Bardet-Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort.

Meng X et al.

Frontiers in Cell and Developmental Biology, 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."