Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.Q73_V74Splc
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TERT

NM_198253.3:p.Q73_V74Splc

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

The Genetic Landscape of Familial Pulmonary Fibrosis.

Liu Q et al.

American Journal of Respiratory and Critical Care Medicine, 2023

Telomere shortening in familial and sporadic pulmonary fibrosis.

Cronkhite JT et al.

American Journal of Respiratory and Critical Care Medicine, 2008

Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.

Vulliamy TJ et al.

Biochimie, 2008

Human diseases of telomerase dysfunction: insights into tissue aging.

Garcia CK et al.

Nucleic Acids Research, 2007

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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."