Varaico: Literature-Extracted Genetic Variants

Gene:RTEL1
Variant:p.Q1042H
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RTEL1

NM_001283009.2:p.Q1042H

Associated Papers

The many faces of the helicase RTEL1 at telomeres and beyond.

Hourvitz N et al.

Trends in Cell Biology, 2024

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

Tobai H et al.

Pediatric Blood & Cancer, 2023

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Whole-Genome Sequencing Identifies the Egl Nine Homologue 3 (egln3/phd3) and Protein Phosphatase 1 Regulatory Inhibitor Subunit 2 (PPP1R2P1) Associated with High-Altitude Polycythemia in Tibetans at High Altitude.

Gesang L et al.

Disease Markers, 2019

31827636 (PubMed )
Supplement: 5946461.f1.xlsx › Supplementary_Table_S1

Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.

Moon CM et al.

Inflammatory Bowel Diseases, 2018

29733354 (PubMed )
Supplement: izy122_suppl_supporting_data.pdf

Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.

Moriya K et al.

Pediatric Blood & Cancer, 2016

Association between regulator of telomere elongation helicase 1 polymorphism and susceptibility to glioma.

Pei S et al.

International Journal of Clinical and Experimental Medicine, 2015

Regulator of telomere elongation helicase 1 (RTEL1) rs6010620 polymorphism contribute to increased risk of glioma.

Zhao W et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2014

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.

Christodoulou K et al.

Gut, 2013

22543157 (PubMed )
Supplement: gutjnl-2011-301833-s1.pdf

Fine mapping analysis of a region of 20q13.33 identified five independent susceptibility loci for glioma in a Chinese Han population.

Song X et al.

Carcinogenesis, 2012

Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a Chinese population.

Chen H et al.

American Journal of Epidemiology, 2011

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

Anderson CA et al.

Nature Genetics, 2011

21297633 (PubMed )
Supplement: NIHMS265993-supplement-1.pdf
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