Varaico: Literature-Extracted Genetic Variants

Gene:BBS2
Variant:p.K268_V269Splc
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BBS2

NM_031885.5:p.K268_V269Splc

Associated Papers

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

Hoskins BE et al.

Human Mutation, 2003

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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."