Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.R284Q
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DKC1

NM_001363.5:p.R284Q

Associated Papers

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

Evrard O et al.

Erj Open Research, 2026

Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.

Subasri V et al.

Cancer Research Communications, 2023

37377903 (PubMed )
Supplement: crc-22-0402-s04.xlsx › A._Class3_SNVs_indels

Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.

Zhang D et al.

The European Respiratory Journal, 2022

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