Varaico: Literature-Extracted Genetic Variants

Gene:FLT4
Variant:p.D1037H
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FLT4

NM_182925.5:p.D1037H

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

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

Gordon K et al.

Human Mutation, 2013

Primary congenital lymphedema complicated by hydrops fetalis: a case report and review of the literature.

Singh P et al.

Case Reports in Obstetrics and Gynecology, 2013

Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.

Connell FC et al.

Human Genetics, 2009

Milroy's primary congenital lymphedema in a male infant and review of the literature.

Kitsiou-Tzeli S et al.

In Vivo (athens, Greece), 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."