Varaico: Literature-Extracted Genetic Variants

Gene:VEGFA
Variant:p.E89K
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VEGFA

NM_003376.6:p.E89K

Associated Papers

Investigating the Structural and Functional Consequences of Pathogenic SNPs on Human VEGFA Dimer: Insights from Molecular Dynamics Study.

Islam R et al.

Acs Omega, 2025

41244458 (PubMed )
Supplement: ao5c07106_si_001.pdf

Ocular Manifestations of Familial Transthyretin Amyloidosis.

Reynolds MM et al.

American Journal of Ophthalmology, 2017

Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.

Iorio A et al.

Bmc Genomics, 2017

28335735 (PubMed )
Supplement: 12864_2017_3646_MOESM1_ESM.pdf

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

McDonald-McGinn DM et al.

Journal of Medical Genetics, 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."