Varaico: Literature-Extracted Genetic Variants

Gene:VPS13B
Variant:p.G138Splc
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VPS13B

NM_152564.5:p.G138Splc

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

The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.

El Chehadeh-Djebbar S et al.

Journal of Medical Genetics, 2011

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

Parri V et al.

European Journal of Human Genetics : Ejhg, 2010

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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."