Identification of a Novel Splice Variant (c.423-8A>G) of APC by RNA Sequencing-Reference-Cited by-同舟云学术

Identification of a Novel Splice Variant (c.423-8A>G) of APC by RNA Sequencing

Published:2020-07-01 Issue:4 Volume:40 Page:345-347
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Kim Aram¹^ORCID,Kim Hyun-Ki¹^ORCID,Ahn Sunyoung²^ORCID,Hong Yong Sang³^ORCID,Lim Seok-Byung⁴^ORCID,Byeon Jeong-Sik⁵^ORCID,Chun Sail¹^ORCID,Min Won-Ki¹^ORCID,Lee Woochang¹^ORCID

Affiliation:

1. Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea

2. Department of Laboratory Medicine, Kangwon National University Hospital, Chuncheon, Korea

3. Department of Oncology, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea

4. Department of Surgery, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea

5. Department of Gastroenterology, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry, medical,Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/alm.2020.40.4.345

Reference8 articles.

1. A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing

2. Human Gene Mutation Database (HGMD®): 2003 update

3. In silico prediction of splice-altering single nucleotide variants in the human genome

4. Human Splicing Finder: an online bioinformatics tool to predict splicing signals

5. Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing Signals

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