Varaico: Literature-Extracted Genetic Variants

Gene:NCF1
Variant:p.W204*
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NCF1

NM_000265.7:p.W204*

Associated Papers

UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.

Saini N et al.

Plos Genetics, 2021

33444353 (PubMed )
Supplement: pgen.1009302.s011.xlsx › S2b

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

Detection of non-DeltaGT NCF-1 mutations in chronic granulomatous disease.

Jakobsen MA et al.

Genetic Testing and Molecular Biomarkers, 2009

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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."