Varaico: Literature-Extracted Genetic Variants

Gene:FOXC2
Variant:p.Q100*
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FOXC2

NM_005251.3:p.Q100*

Associated Papers

Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.

Qureshi HM et al.

Cerebral Cortex (new York, N.y. : 1991), 2023

Human venous valve disease caused by mutations in FOXC2 and GJC2.

Lyons O et al.

The Journal of Experimental Medicine, 2017

28724617 (PubMed )
Supplement: JEM_20160875_sm.pdf

FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst.

Ogura Y et al.

Plos One, 2013

Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome.

Sánchez-Carpintero R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.

Sholto-Douglas-Vernon C et al.

Human Genetics, 2005

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

Erickson RP et al.

Journal of Medical Genetics, 2001

Lymphedema-distichiasis and FOXC2 gene mutations.

Erickson RP

Lymphology, 2001

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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."