Varaico: Literature-Extracted Genetic Variants

Gene:BBS2
Variant:p.K39K
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BBS2

NM_031885.5:p.K39K

Associated Papers

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Schlottmann PG et al.

Npj Genomic Medicine, 2023

37217489 (PubMed )
Supplement: 41525_2023_352_MOESM2_ESM.xlsx › Hoja1

The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.

Méjécase C et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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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."