Varaico: Literature-Extracted Genetic Variants

Gene:PCIF1
Variant:p.R113W
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PCIF1

NM_022104.4:p.R113W

Associated Papers

Systematic phenotype and genotype characterization of Moebius syndrome.

Webb BD et al.

Genetics in Medicine Open, 2025

40662098 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_8

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › UH2T1
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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."