Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis-Reference-Cited by-同舟云学术

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Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis

Published:2014-10 Issue:10 Volume:16 Page:783-786
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Shirts Brian H.,Salipante Stephen J.,Casadei Silvia,Ryan Shawnia,Martin Judith,Jacobson Angela,Vlaskin Tatyana,Koehler Karen,Livingston Robert J.,King Mary-Claire,Walsh Tom,Pritchard Colin C.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim201430.pdf

Reference18 articles.

1. APC-associated polyposis conditions;Jasperson,1993

Cited by 10 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. Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization;European Journal of Human Genetics;2023-02-24

2. Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents;Frontiers in Oncology;2022-10-28

3. Intronic Breakpoint Signatures Enhance Detection and Characterization of Clinically Relevant Germline Structural Variants;The Journal of Molecular Diagnostics;2021-05

4. A distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposis;BMC Medical Genomics;2021-03-19

5. Current status of the genetic susceptibility in attenuated adenomatous polyposis;World Journal of Gastrointestinal Oncology;2019-12-15

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