Varaico: Literature-Extracted Genetic Variants

Gene:PARN
Variant:p.R150C
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PARN

NM_002582.4:p.R150C

Associated Papers

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

Nurelegne HT et al.

Molecular Genetics & Genomic Medicine, 2025

Dysplastic megakaryocytes in dyskeratosis congenita with variant in PARN.

Liu H et al.

Blood, 2022

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

Miller CR et al.

Cold Spring Harbor Molecular Case Studies, 2020

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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."