Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.L864P
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TERT

NM_198253.3:p.L864P

Associated Papers

Detailed assessment of rare and common TERT variation in a family with a telomere biology disorder.

Zeigler LP et al.

Hgg Advances, 2026

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

Pathogenic TERT promoter variants in telomere diseases.

Gutierrez-Rodrigues F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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