Two novel variants in the ATM gene causing ataxia‐telangiectasia, including a duplication of 90 kb: Utility of targeted next‐generation sequencing in detection of copy number variation-Reference-Cited by-同舟云学术

Two novel variants in the ATM gene causing ataxia‐telangiectasia, including a duplication of 90 kb: Utility of targeted next‐generation sequencing in detection of copy number variation

Published:2019-03-19 Issue:4 Volume:83 Page:266-273
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Martin‐Rodriguez Samuel¹^ORCID,Calvo‐Ferrer Alicia¹,Ortega‐Unanue Nerea¹,Samaniego‐Jimenez Laura¹,Sanz‐Izquierdo Maria Pilar¹,Bernardo‐Gonzalez Ivan¹

Affiliation:

1. Department of Biomedical Diagnostics Hospital San Pedro Logroño Spain

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12312

Reference23 articles.

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2. Ataxie–télangiectasie : de la clinique à la physiopathologie

3. ATM mutations in B‐cell chronic lymphocytic leukemia;Bullrich F.;Cancer Research,1999

4. A study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genes

5. Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20;Cavalieri S.;Annals of Human Genetics,2008

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