Associated Papers
Structural and functional consequences of the cardiomyopathy-associated p.R157C mutation in the C-terminal palindromic motif of human αB-crystallin.
Rezaei Somee L et al.
Febs Letters, 2025
A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.
Marcos AT et al.
Molecular Genetics & Genomic Medicine, 2020
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1
Results of comprehensive genetic testing in patients presenting to a multidisciplinary inherited heart disease clinic in India.
Chockalingam P et al.
Indian Heart Journal, 0
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