Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy-Reference-Cited by-同舟云学术

Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

Published:2021-12 Issue:12 Volume:23 Page:2455-2460
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Calame Daniel G.,Bakhtiari Somayeh,Logan Rachel,Coban-Akdemir Zeynep,Du Haowei,Mitani Tadahiro,Fatih Jawid M.,Hunter Jill V.,Herman Isabella,Pehlivan Davut,Jhangiani Shalini N.,Person Richard,Schnur Rhonda E.,Jin Sheng Chih,Bilguvar Kaya,Posey Jennifer E.,Koh Sookyong,Firouzabadi Saghar G.,Alehabib Elham,Tafakhori Abbas,Esmkhani Sahra,Gibbs Richard A.,Noureldeen Mahmoud M.,Zaki Maha S.,Marafi Dana,Darvish Hossein,Kruer Michael C.,Lupski James R.

Funder

National Human Genome Research Institute

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

https://www.nature.com/articles/s41436-021-01291-x.pdf

Reference24 articles.

1. Alternative splicing regulatory networks: functions, mechanisms, and evolution;Ule,2019

2. Variation in alternative splicing across human tissues;Yeo,2004

3. Alternative splicing in the mammalian nervous system: recent insights into mechanisms and functional roles;Raj,2015