Pathogenic intronic splice-affecting variants in MYBPC3 in three patients with hypertrophic cardiomyopathy
Genetic variants in MYBPC3 are one of the most common causes of hypertrophic cardiomyopathy (HCM). While variants in MYBPC3 affecting canonical splice site dinucleotides are a well-characterised cause of HCM, only recently has work begun to investigate the pathogenicity of more deeply intronic varia...
| Main Authors: | , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
MDPI
2021
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