Varaico: Literature-Extracted Genetic Variants

Gene:CFC1
Variant:p.R78W
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CFC1

NM_032545.4:p.R78W

Associated Papers

Application of CRISPR-Cas9 gene editing for congenital heart disease.

Seok H et al.

Clinical and Experimental Pediatrics, 2021

Duplication and deletion of CFC1 associated with heterotaxy syndrome.

Cao R et al.

Dna and Cell Biology, 2015

CFC1 mutations in Chinese children with congenital heart disease.

Wang B et al.

International Journal of Cardiology, 2011

Genetic factors in non-syndromic congenital heart malformations.

Wessels MW et al.

Clinical Genetics, 2010

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.

Roessler E et al.

American Journal of Human Genetics, 2008

Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease.

Selamet Tierney ES et al.

Cardiology in the Young, 2007

CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.

Goldmuntz E et al.

American Journal of Human Genetics, 2002

Structure-function analysis of the EGF-CFC family member Cripto identifies residues essential for nodal signalling.

Minchiotti G et al.

Development (cambridge, England), 2001

Genetic basis of syndromes associated with congenital heart disease.

Gelb BD

Current Opinion in Cardiology, 2001

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.

Bamford RN et al.

Nature Genetics, 2000

Mutations in the EGF-CFC gene cryptic are an infrequent cause of congenital heart disease.

Ozcelik C et al.

Pediatric Cardiology, 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."