Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.D868G
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TERT

NM_198253.3:p.D868G

Associated Papers

Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.

Niewisch MR et al.

Jama Network Open, 2024

39661387 (PubMed )
Supplement: jamanetwopen-e2450111-s001.pdf

Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations.

van der Vis JJ et al.

Respirology (carlton, Vic.), 2021

Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy.

Sharma A et al.

Pediatric Blood & Cancer, 2014

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