Varaico: Literature-Extracted Genetic Variants

Gene:CTF1
Variant:p.H31L
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CTF1

NM_001330.5:p.H31L

Associated Papers

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.

Pua CJ et al.

Journal of Cardiovascular Translational Research, 2016

26888179 (PubMed )
Supplement: 12265_2016_9673_MOESM1_ESM.xlsx › ST1_List_of_genes

Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.

Garcia J et al.

Frontiers in Cardiovascular Medicine, 2016

27446933 (PubMed )
Supplement: data_sheet_1.docx

High-density genotyping of immune loci in Kawasaki disease and IVIG treatment response in European-American case-parent trio study.

Shendre A et al.

Genes and Immunity, 2014

Genetic variants in the promoter (g983G>T) and coding region (A92T) of the human cardiotrophin-1 gene (CTF1) in patients with dilated cardiomyopathy.

Erdmann J et al.

Human Mutation, 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."