Varaico: Literature-Extracted Genetic Variants

Gene:RTEL1
Variant:p.R986Q
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RTEL1

NM_001283009.2:p.R986Q

Associated Papers

Implementation of a prospective screening strategy to identify adults with a telomere biology disorder among those undergoing lung transplant evaluation for interstitial lung disease.

Banaszak LG et al.

Respiratory Medicine, 2023

The Genetic Landscape of Familial Pulmonary Fibrosis.

Liu Q et al.

American Journal of Respiratory and Critical Care Medicine, 2023

MiR-509-3 augments the synthetic lethality of PARPi by regulating HR repair in PDX model of HGSOC.

Sun C et al.

Journal of Hematology & Oncology, 2020

32005272 (PubMed )
Supplement: 13045_2020_844_MOESM10_ESM.xlsx › DDR_genes

Rare variants in RTEL1 are associated with familial interstitial pneumonia.

Cogan JD et al.

American Journal of Respiratory and Critical Care Medicine, 2015

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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."