Varaico: Literature-Extracted Genetic Variants

Gene:RTEL1
Variant:p.A1062T
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RTEL1

NM_001283009.2:p.A1062T

Associated Papers

The Genetic Landscape of Familial Pulmonary Fibrosis.

Liu Q et al.

American Journal of Respiratory and Critical Care Medicine, 2023

Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.

Marsh JCW et al.

Blood Advances, 2018

The molecular genetics of the telomere biology disorders.

Bertuch AA

Rna Biology, 2016

Many disease-associated variants of hTERT retain high telomerase enzymatic activity.

Zaug AJ et al.

Nucleic Acids Research, 2013

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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."