Varaico: Literature-Extracted Genetic Variants

Gene:NAF1
Variant:p.S329fs
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NAF1

NM_138386.3:p.S329fs

Associated Papers

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

Diagnostic utility of telomere length testing in a hospital-based setting.

Alder JK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

29463756 (PubMed )
Supplement: pnas.201720427SI.pdf

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."