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Image Search Results
Journal: Scientific Reports
Article Title: Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree
doi: 10.1038/s41598-022-11159-y
Figure Lengend Snippet: Frequency of cryptic splice-altering MYBPC3 variants in a large cohort of HCM probands.
Article Snippet: The probability of a variant being splice-altering was estimated in silico using the deep learning-based
Techniques: