Identification of four TTN variants in three families with fetal akinesia deformation sequence
Abstract Background TTN is a complex gene with large genomic size and highly repetitive structure. Pathogenic variants in TTN have been reported to cause a range of skeletal muscle and cardiac disorders. Homozygous or compound heterozygous mutations tend to cause a wide spectrum of phenotypes with c...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Book |
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BMC,
2024-06-01T00:00:00Z.
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