Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.G861Splc
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TERT

NM_198253.3:p.G861Splc

Associated Papers

Telomerase mutations in smokers with severe emphysema.

Stanley SE et al.

The Journal of Clinical Investigation, 2015

Telomere shortening in familial and sporadic pulmonary fibrosis.

Cronkhite JT et al.

American Journal of Respiratory and Critical Care Medicine, 2008

Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.

Vulliamy TJ et al.

Biochimie, 2008

Telomerase mutations in families with idiopathic pulmonary fibrosis.

Armanios MY et al.

The New England Journal of Medicine, 2007

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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."