Associated Papers
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R et al.
Npj Genomic Medicine, 2022
35288587 (PubMed )
Supplement: 41525_2022_288_MOESM2_ESM.xlsx › SpTable_3_LOF_Novel_CMP_genes
A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene.
Myasnikov R et al.
Genes, 2022
Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy.
Ochoa JP et al.
Clinical Genetics, 2020
Reply: Revisiting Genome Sequencing Data in Light of Novel Disease Gene Associations.
Ochoa JP et al.
Journal of the American College of Cardiology, 2019
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