Varaico: Literature-Extracted Genetic Variants

Gene:CPA6
Variant:p.R182*
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CPA6

NM_020361.5:p.R182*

Associated Papers

Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot.

Pan Y et al.

Translational Pediatrics, 2023

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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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."