Varaico: Literature-Extracted Genetic Variants

Gene:CETP
Variant:p.A55delFs
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CETP

NM_000078.3:p.A55delFs

Associated Papers

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Hitti-Malin RJ et al.

Biomolecules, 2024

38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S10-Mono-allelic_variants_in_probands_considered_not_solved.xlsx › Sheet1

Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning.

Ivanoshchuk DE et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2023

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.

Ramensky VE et al.

Frontiers in Genetics, 2021

34691145 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Table_3
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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."