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Article

Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia.

Familial cancer - 1 Nov 2024

Virijevic M, Marjanovic I, Andjelkovic M, Jakovic Lj, Micic D, Bogdanovic A, Pavlovic S

Abstract excerpt

Telomerase Reverse Transcriptase (TERT) encodes the telomerase reverse transcriptase enzyme and is the most frequently mutated gene in patients with telomeropathies. Heterozygous variants impair telomerase activity by haploinsufficiency and pathogenic variants are associated with bone marrow failure syndrome and predisposition to acute myeloid leukaemia. Owing to their rarity, telomeropathies are often...

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Identifiers

PMID: 38795222
DOI: 10.1007/s10689-024-00399-8

Genes

TERT

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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