Varaico: Literature-Extracted Genetic Variants

Gene:PARN
Variant:p.R444C
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PARN

NM_002582.4:p.R444C

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

Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.

Popp B et al.

European Journal of Human Genetics : Ejhg, 2022

36100708 (PubMed )
Supplement: 41431_2022_1177_MOESM1_ESM.pdf

Homozygous Rare PARN Missense Mutation in Familial Pulmonary Fibrosis.

Zhang D et al.

American Journal of Respiratory and Critical Care Medicine, 2019

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L01
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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."