Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.Y86*
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DKC1

NM_001363.5:p.Y86*

Associated Papers

Insights Into Poikiloderma With Neutropenia: Genotypic and Phenotypic Analysis of 90 Cases With a New Case Report.

Becker M et al.

American Journal of Medical Genetics. Part A, 2026

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.

Walne AJ et al.

Human Molecular Genetics, 2010

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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."