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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DKC1

Variant:p.Y416C

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DKC1

NM_001363.5:p.Y416C

hg38:chrX:154774693 A>G

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 )

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