Identification of Compound Heterozygous Variants in OBSCN Gene Associated With Rhabdomyolysis: A Case Report
ABSTRACT Background The obscurin protein encoded by the OBSCN gene is an important structural protein in the regulation of myocyte sarcoplasmic nodule stability and sarcoplasmic reticulum function and is particularly closely associated with calcium ion (Ca2+) signaling. With increasing genomic studi...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-04-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.70094 |
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