Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
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Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry;Neuromuscular Disorders;2024-01
2. Screening for late-onset Pompe disease in Internal Medicine departments in Spain;Orphanet Journal of Rare Diseases;2023-08-31
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