Varaico: Literature-Extracted Genetic Variants

Gene:NAF1
Variant:p.K328insFs
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NAF1

NM_138386.3:p.K328insFs

Associated Papers

Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.

Niewisch MR et al.

Jama Network Open, 2024

39661387 (PubMed )
Supplement: jamanetwopen-e2450111-s001.pdf

A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.

Villeneuve J et al.

American Journal of Respiratory Cell and Molecular Biology, 2024

What do polymorphisms tell us about the mechanisms of COPD?

Li Y et al.

Clinical Science (london, England : 1979), 2017

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema.

Stanley SE et al.

Science Translational Medicine, 2016

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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."