Cohort Studyhigh evidence
Natural Missplicing Events Amplified by an Elusive Deep-Intronic MYBPC3 Variant Cause Hypertrophic Cardiomyopathy.
Circulation·September 15, 2026·PMID 42741831
Why it mattersGenotype-negative HCM patients may harbor elusive deep-intronic splice-altering variants that standard prediction tools miss. This variant's high penetrance and founder effect in a specific population underscore the need for enhanced splicing analysis in unresolved HCM cases.
The papers that matter, first.
MedLit ranks the medical literature into a specialty feed with concise summaries, evidence-aware triage, and visual takeaways.
§
MedLit · Evidence, Distilled