A rare missense variant in protection of telomeres 1 ( POT1 ) predisposes to a range of haematological malignancies
Author:
Affiliation:
1. QIMR Berghofer Medical Research Institute Herston Queensland Australia
2. University of Queensland Herston Queensland Australia
3. University of Highlands and Islands Inverness Scotland
Funder
Highlands and Islands Enterprise
National Health and Medical Research Council
Cure Cancer Australia Foundation
Publisher
Wiley
Subject
Hematology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.17218
Reference15 articles.
1. Shelterin-Mediated Telomere Protection
2. Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma
3. Germline mutations in Protection of Telomeres 1 in two families with Hodgkin lymphoma
4. Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers
5. The Sequence Alignment/Map format and SAMtools
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3. Identification of a Cancer-Predisposing Germline POT1 p.Ile49Metfs*7 Variant by Targeted Sequencing of a Splenic Marginal Zone Lymphoma;Genes;2022-03-26
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