Varaico: Literature-Extracted Genetic Variants

Gene:CFAP54
Variant:p.R347Q
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CFAP54

NM_001306084.2:p.R347Q

Associated Papers

Integrated genetic and epigenetic analysis reveals DNA repair alterations in multifocal hepatocellular carcinoma.

Ling YH et al.

Signal Transduction and Targeted Therapy, 2023

37349321 (PubMed )
Supplement: 41392_2023_1446_MOESM2_ESM.xlsx › Sheet_1

Exome-Based Case-Control Analysis Highlights the Pathogenic Role of Ciliary Genes in Transposition of the Great Arteries.

Liu X et al.

Circulation Research, 2020

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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."