Varaico: Literature-Extracted Genetic Variants

Gene:BBS4
Variant:p.T437_K438insFs
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BBS4

NM_033028.5:p.T437_K438insFs

Associated Papers

The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia.

Milibari D et al.

Genes, 2024

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM23_ESM.xlsx › Sheet1

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

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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."