Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.A175Splc
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ENG

NM_001114753.3:p.A175Splc

Associated Papers

A theory for polymicrogyria and brain arteriovenous malformations in HHT.

Klostranec JM et al.

Neurology, 2019

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

Identifying common genetic variants by high-resolution melting.

Vandersteen JG et al.

Clinical Chemistry, 2007

Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

Gedge F et al.

The Journal of Molecular Diagnostics : Jmd, 2007

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.

Bayrak-Toydemir P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."