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#variants
— Tuesday, July 21, 2026
(2 items)
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Classification models for KCNQ1 variants distinguish functional and trafficking effects to enhance pathogenicity interpretation.
(pnas.org)
Chang-Gonzalez AC
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Meiler J
PNAS
2026-07-21
#variants
#arrhythmia
#machine learning
#pathogenicity
#ion channel
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Comprehensive biophysical and structural profiling of alpha-actinin-2 variants reveals mechanistic diversity in hypertrophic cardiomyopathy.
(nature.com)
Noureddine M
…
Gehmlich K
Nature Communications
2026-07-21
#cardiomyopathy
#variants
#structural biology
#folding
#biophysics