Analysis of stop-gain and frameshift variants in human innate immunity genes.
Loss-of-function variants in innate immunity genes are associated with Mendelian disorders in the form of primary immunodeficiencies. Recent resequencing projects report that stop-gains and frameshifts are collectively prevalent in humans and could be responsible for some of the inter-individual var...
Saved in:
Main Authors: | Antonio Rausell, Pejman Mohammadi, Paul J McLaren, Istvan Bartha, Ioannis Xenarios, Jacques Fellay, Amalio Telenti |
---|---|
Format: | article |
Language: | EN |
Published: |
Public Library of Science (PLoS)
2014
|
Subjects: | |
Online Access: | https://doaj.org/article/7d73418f899b4c33a120716f496a84b9 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
MACSE: Multiple Alignment of Coding SEquences accounting for frameshifts and stop codons.
by: Vincent Ranwez, et al.
Published: (2011) -
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
by: Livia O. Loureiro, et al.
Published: (2021) -
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
by: Qifei Li, et al.
Published: (2021) -
Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3
by: Pouria Mohammadi, et al.
Published: (2021) -
Reversible gene silencing through frameshift indels and frameshift scars provide adaptive plasticity for Mycobacterium tuberculosis
by: Aditi Gupta, et al.
Published: (2021)