Varaico: Literature-Extracted Genetic Variants

Gene:PARN
Variant:p.Y161C
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PARN

NM_002582.4:p.Y161C

Associated Papers

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

Nurelegne HT et al.

Molecular Genetics & Genomic Medicine, 2025

Prospective genetic germline evaluation in a consecutive group of adult patients aged <60 years with myelodysplastic syndromes.

Attardi E et al.

Hemasphere, 2024

Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.

Molteni E et al.

Blood, 2023

37216690 (PubMed )
Supplement: BLOOD_BLD-2022-019304-mmc1.pdf

Interstitial lung diseases associated with mutations of poly(A)-specific ribonuclease: A multicentre retrospective study.

Philippot Q et al.

Respirology (carlton, Vic.), 2022

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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."