Varaico: Literature-Extracted Genetic Variants

Gene:CFD
Variant:p.I248M
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CFD

NM_001928.4:p.I248M

Associated Papers

Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.

Sung CC et al.

Frontiers in Microbiology, 2024

39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet

Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.

Gavriilaki E et al.

Current Issues in Molecular Biology, 2022

35877417 (PubMed )
Supplement: cimb-44-00193-s001.zip › cimb-1755355-supplementary.xlsx › AP_and_LP_variant_comparisons

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Complement factor D haplodeficiency is associated with a reduced complement activation speed and diminished bacterial killing.

Langereis JD et al.

Clinical & Translational Immunology, 2021

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s006.xlsx › TableS5
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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."