Whole Exome Sequencing Identified a Stop-Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family
Discussion: Bioinformatics analyses and clinical findings confirmed the pathogenicity of this variant in a homozygous state, consistent with autosomal recessive inheritance. Furthermore, structural modeling suggested that the mutation significantly disrupts the tertiary structure of dysferlin. Since...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-01-01
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| Series: | International Journal of Genomics |
| Online Access: | http://dx.doi.org/10.1155/ijog/9103068 |
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