Varaico: Literature-Extracted Genetic Variants

Gene:FLT4
Variant:p.H1035Q
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FLT4

NM_182925.5:p.H1035Q

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

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

Page DJ et al.

Circulation Research, 2019

Research perspectives in inherited lymphatic disease: an update.

Ferrell RE et al.

Annals of the New York Academy of Sciences, 2008

A novel VEGFR3 mutation causes Milroy disease.

Butler MG et al.

American Journal of Medical Genetics. Part A, 2007

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

Ghalamkarpour A et al.

Clinical Genetics, 2006

[Hypophosphatasia: a family study].

Guala A et al.

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics, 0

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

Kitsiou-Tzeli S et al.

In Vivo (athens, Greece), 0

[Congenital Milroy Oedema: a case report of a family].

Raffa V et al.

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics, 0

[Genomic imprinting and human pathology. 2].

Cirillo Silengo M et al.

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics, 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."