Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.Y120_N121Splc
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ENG

NM_001114753.3:p.Y120_N121Splc

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

Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia.

Tørring PM et al.

Plos One, 2014

HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.

Lux A et al.

Orphanet Journal of Rare Diseases, 2013

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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."