Varaico: Literature-Extracted Genetic Variants

Gene:PARN
Variant:p.R251delFs
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PARN

NM_002582.4:p.R251delFs

Associated Papers

Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation.

Nurelegne HT et al.

Molecular Genetics & Genomic Medicine, 2025

The Genetic Landscape of Familial Pulmonary Fibrosis.

Liu Q et al.

American Journal of Respiratory and Critical Care Medicine, 2023

Molecular genetics of idiopathic pulmonary fibrosis.

Mustafin RN

Vavilovskii Zhurnal Genetiki I Selektsii, 2022

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.

Stuart BD et al.

Nature Genetics, 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."