Varaico: Literature-Extracted Genetic Variants

Gene:CFC1
Variant:p.R47Q
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CFC1

NM_032545.4:p.R47Q

Associated Papers

Investigating the role of EGF-CFC gene family in recurrent pregnancy loss through bioinformatics and molecular approaches.

Bremm JM et al.

Systems Biology in Reproductive Medicine, 2021

Exomic sequencing of four rare central nervous system tumor types.

Bettegowda C et al.

Oncotarget, 2013

23592488 (PubMed )
Supplement: oncotarget-04-572-s001.xlsx › supp_table_1c

Familial transposition of the great arteries caused by multiple mutations in laterality genes.

De Luca A et al.

Heart (british Cardiac Society), 2010

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

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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."