2020
DOI: 10.1080/15476286.2020.1809195
View full text
|
|

Abstract: Causative mutations for human genetic disorders have mainly been identified in exonic regions that code for amino acid sequences. Recently, however, it has been reported that mutations in deep intronic regions can also cause certain human genetic disorders by creating novel splice sites, leading to pseudoexon activation. To investigate how frequently pseudo-exon activation events occur in normal individuals, we conducted in silico identification of such events using personal genome data and corresponding high-… Show more

Help me understand this page

Search citation statements

Order By: Relevance

Paper Sections

0
0
0
0
0

Citation Types

1
7
0

Publication Types

Select...

Relationship

0
0

Authors

Journals