Varaico: Literature-Extracted Genetic Variants

Gene:CFAP418
Variant:p.R125Splc
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CFAP418

NM_177965.4:p.R125Splc

Associated Papers

Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity.

Bonetti G et al.

Journal of Clinical Medicine, 2022

36556146 (PubMed )
Supplement: jcm-11-07531-s001.zip › jcm-2023798-supplementary.pdf

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Hitti-Malin RJ et al.

Human Mutation, 2022

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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."