Varaico: Literature-Extracted Genetic Variants

Gene:FLT4
Variant:p.I1053F
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FLT4

NM_182925.5:p.I1053F

Associated Papers

A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects.

Tabib A et al.

European Journal of Medical Research, 2022

Pulling back the curtain: The hidden functions of receptor tyrosine kinases in development.

Clark JF et al.

Current Topics in Developmental Biology, 2022

Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedema.

Martin-Almedina S et al.

Physiological Reviews, 2021

The physiological and pathological functions of VEGFR3 in cardiac and lymphatic development and related diseases.

Monaghan RM et al.

Cardiovascular Research, 2021

VEGFR-3 Signaling Regulates Triglyceride Retention and Absorption in the Intestine.

Shew T et al.

Frontiers in Physiology, 2018

FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.

Gordon K et al.

Human Mutation, 2013

VEGFR-3 ligand-binding and kinase activity are required for lymphangiogenesis but not for angiogenesis.

Zhang L et al.

Cell Research, 2010

Recessive primary congenital lymphoedema caused by a VEGFR3 mutation.

Ghalamkarpour A et al.

Journal of Medical Genetics, 2009

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.

Ghalamkarpour A et al.

Clinical Genetics, 2006

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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."