A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays-Reference-Cited by-同舟云学术

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A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays

Published:2014-07-26 Issue:2 Volume:87 Page:100-108
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Thompson B.A.¹²^ORCID,Martins A.³,Spurdle A.B.¹

Affiliation:

1. Department of Genetics and Computational Biology; QIMR Berghofer Medical Research Institute; Brisbane Australia

2. School of Medicine; University of Queensland; Brisbane Australia

3. Inserm U1079; University of Rouen, Institute for Research and Innovation in Biomedicine; Rouen France

Funder

Cancer Council Queensland

Cancer Australia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference76 articles.

1. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts;Vasen;Gut,2013

2. Constitutional mismatch repair-deficiency syndrome;Wimmer;Haematologica,2010

3. The frequency of Muir-Torre syndrome among Lynch syndrome families;South;J Natl Cancer Inst,2008

4. Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members;Jarvinen;J Clin Oncol,2009

5. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database;Thompson;Nat Genet,2014

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants;npj Precision Oncology;2024-05-24

2. Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria;Human Molecular Genetics;2024-02-04

3. Benchmarking splice variant prediction algorithms using massively parallel splicing assays;Genome Biology;2023-12-21

4. Benchmarking splice variant prediction algorithms using massively parallel splicing assays;2023-05-07

5. Lynch Syndrome Genetics and Clinical Implications;Gastroenterology;2023-04

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