Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.Y416N
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DKC1

NM_001363.5:p.Y416N

Associated Papers

Adult male patients with DKC1 mutations present early-onset pulmonary fibrosis and severe prognosis.

Evrard O et al.

Erj Open Research, 2026

41561101 (PubMed )
Supplement: 00417-2025.supplement.pdf

Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita.

Otoshi R et al.

Internal Medicine (tokyo, Japan), 2021

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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."