Varaico: Literature-Extracted Genetic Variants

Gene:RTEL1
Variant:p.W456C
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RTEL1

NM_001283009.2:p.W456C

Associated Papers

Neonatal intestinal obstruction in Hoyeraal-Hreidarsson syndrome with novel RTEL1 variants.

Tobai H et al.

Pediatric Blood & Cancer, 2023

Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita.

Nisar H et al.

Frontiers in Oncology, 2023

Clinical and Molecular Heterogeneity of RTEL1 Deficiency.

Speckmann C et al.

Frontiers in Immunology, 2017

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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."