Publications:

Rare Protein-Altering Telomere-related Gene Variants in Patients with Chronic Hypersensitivity Pneumonitis.

American Journal Of Respiratory And Critical Care Medicine

Ley, Brett B; Torgerson, Dara G DG; Oldham, Justin M JM; Adegunsoye, Ayodeji A; Liu, Shuo S; Li, Jie J; Elicker, Brett M BM; Henry, Travis S TS; Golden, Jeffrey A JA; Jones, Kirk D KD; Dressen, Amy A; Yaspan, Brian L BL; Arron, Joseph R JR; Noth, Imre I; Hoffmann, Thomas J TJ; Wolters, Paul J PJ

Publication Date: 2019-11-01

Variant appearance in text: TERT: R951W; rs370445231

PubMed Link: 31268371

Variant Present in the following documents:

• Main text

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Pleuroparenchymal fibroelastosis associated with telomerase reverse transcriptase mutations.

The European Respiratory Journal

Newton, Chad A CA; Batra, Kiran K; Torrealba, Jose J; Meyer, Keith K; Raghu, Ganesh G; Garcia, Christine Kim CK

Publication Date: 2017-05

Variant appearance in text: TERT: 2851C>T; Arg951Trp

PubMed Link: 28495683

Variant Present in the following documents:

• Main text

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Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.

The European Respiratory Journal

Newton, Chad A CA; Batra, Kiran K; Torrealba, Jose J; Kozlitina, Julia J; Glazer, Craig S CS; Aravena, Carlos C; Meyer, Keith K; Raghu, Ganesh G; Collard, Harold R HR; Garcia, Christine Kim CK

Publication Date: 2016-12

Variant appearance in text: TERT: Arg951Trp

PubMed Link: 27540018

Variant Present in the following documents:

• Main text

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Idiopathic pulmonary fibrosis: update on genetic discoveries.

Proceedings Of The American Thoracic Society

Garcia, Christine Kim CK

Publication Date: 2011-05

Variant appearance in text: TERT: R951W

PubMed Link: 21543794

Variant Present in the following documents:

• Main text

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Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.

Plos One

Diaz de Leon, Alberto A; Cronkhite, Jennifer T JT; Katzenstein, Anna-Luise A AL; Godwin, J David JD; Raghu, Ganesh G; Glazer, Craig S CS; Rosenblatt, Randall L RL; Girod, Carlos E CE; Garrity, Edward R ER; Xing, Chao C; Garcia, Christine Kim CK

Publication Date: 2010-05-19

Variant appearance in text: TERT: R951W

PubMed Link: 20502709

Variant Present in the following documents:

• Main text
• pone.0010680.pdf
• pone.0010680.s003.pdf

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