Varaico: Literature-Extracted Genetic Variants

Gene:KDR
Variant:p.W1096*
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KDR

NM_002253.4:p.W1096*

Associated Papers

Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot.

Reuter MS et al.

Circulation. Genomic and Precision Medicine, 2021

Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.

Manshaei R et al.

Frontiers in Genetics, 2020

33110418 (PubMed )
Supplement: Data_Sheet_2.zip › SupplementaryTables_FrontiersInGenetics › Supplementary_Table_S14__Details_of_phenotype_and_additional_rare_variants_in_20_adults_with_TOF_and_selected_deleterious_missense_and_truncating_variants.PDF

A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.

Ticha I et al.

Scientific Reports, 2019

31745173 (PubMed )
Supplement: 41598_2019_53636_MOESM2_ESM.xlsx › class5___class4

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.

Reuter MS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."