Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.R297Q
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BBS1

NM_024649.5:p.R297Q

Associated Papers

[Ophthalmological care of patients with Bardet-Biedl syndrome].

Mahler EA et al.

Die Ophthalmologie, 2026

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

Demir Ş et al.

European Journal of Pediatrics, 2025

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.

Nasser F et al.

Genes, 2022

35886001 (PubMed )
Supplement: genes-13-01218-s001.zip › Supplementary_Tables_S1-S3.pdf

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
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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."