Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.L72F
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DKC1

NM_001363.5:p.L72F

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

Naevus anaemicus-like hypopigmented macules in dyskeratosis congenita.

Lee YP et al.

The Australasian Journal of Dermatology, 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

Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.

Kirwan M et al.

British Journal of Haematology, 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."