Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.T128I
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TERT

NM_198253.3:p.T128I

Associated Papers

Interaction hub critical for telomerase recruitment and primer-template handling for catalysis.

Padmanaban S et al.

Life Science Alliance, 2023

36963832 (PubMed )
Supplement: LSA-2022-01727_review_history.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

30523342 (PubMed )
Supplement: 41436_2018_385_MOESM1_ESM.pdf
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