RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A

Our study broadens the spectrum of aberrant mRNA splicing caused by intronic variants in calpainopathy.

Authors

Institutions

Publication Details

Journal
Neurology Genetics
Published
2025-04-02
DOI
https://doi.org/10.1212/nxg.0000000000200259
Primary Topic
Muscle Physiology and Disorders
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A

Guangyu Wang, Chuanzhu Yan, Shen Gu, Pengfei Lin et al.
Neurology Genetics
Muscle Physiology and Disorders
article

RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A

Guangyu Wang, Chuanzhu Yan, Shen Gu, Pengfei Lin, Guiguan Yang, Haoyang Liu
article en

Abstract

Our study broadens the spectrum of aberrant mRNA splicing caused by intronic variants in calpainopathy.

Neurology GeneticsVol. 11(3)
Chinese University of Hong Kong (HK), Qilu Hospital of Shandong University (CN)
Zero hunger
Openalex Percentile: Top 94%
Muscle Physiology and Disorders
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.