Varaico: Literature-Extracted Genetic Variants

Gene:CFC1
Variant:p.A145T
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CFC1

NM_032545.4:p.A145T

Associated Papers

Phenotypes and genotypes in a cohort of children with single-ventricle CHD.

Baker EK et al.

Cardiology in the Young, 2024

Human Genetics of Atrioventricular Septal Defect.

Maslen CL

Advances in Experimental Medicine and Biology, 2024

Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.

Yoshida A et al.

Journal of Human Genetics, 2016

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.

Leyva-Vega M et al.

American Journal of Medical Genetics. Part A, 2010

Cholestatic liver disease in children.

Santos JL et al.

Current Gastroenterology Reports, 2010

CFC1 gene involvement in biliary atresia with polysplenia syndrome.

Davit-Spraul A et al.

Journal of Pediatric Gastroenterology and Nutrition, 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

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."