Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia
Year: 2024
Type: article
Source: Muscle & Nerve
DOI: 10.1002/mus.28092
Institutions: Shanghai Medical College of Fudan University, Fudan University, Huashan Hospital, State Key Laboratory of Genetic Engineering, Shanghai Jiao Tong University, Shanghai Sixth People's Hospital, First People's Hospital of Yunnan Province, Jinshan Hospital of Fudan University, State Key Laboratory of Medical Neurobiology, Frontiers Center for Brain Science of the Ministry of Education, Zhongshan Hospital
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: closed
Awards: G4618364805, G4637857739, G8974711968
OpenAlex ID: W4393388641