Varaico: Literature-Extracted Genetic Variants

Gene:RTEL1
Variant:p.C1268R
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RTEL1

NM_001283009.2:p.C1268R

Associated Papers

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

Tobai H et al.

Pediatric Blood & Cancer, 2023

Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.

Touzot F et al.

Blood Advances, 2016

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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."