Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.L282L
Back to variants list

DKC1

NM_001363.5:p.L282L

Associated Papers

de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita.

Kocheva SA et al.

Balkan Journal of Medical Genetics : Bjmg, 2021

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.

Walne AJ et al.

Blood, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."