Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.I38_K39delins
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DKC1

NM_001363.5:p.I38_K39delins

Associated Papers

Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad.

Wang L et al.

Frontiers in Pediatrics, 2022

Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

Tsangaris E et al.

Journal of Medical Genetics, 2011

[Clinical and genetic characteristics of a patient with dyskeratosis congenita].

Li JG et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009

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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."