Varaico: Literature-Extracted Genetic Variants

Gene:FHOD3
Variant:p.S549Splc
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FHOD3

NM_001281740.3:p.S549Splc

Associated Papers

Genetic landscape in Russian patients with familial left ventricular noncompaction.

Meshkov AN et al.

Frontiers in Cardiovascular Medicine, 2023

A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study.

Vodnjov N et al.

Plos One, 2023

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

Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.

Walsh R et al.

Nature Reviews. Cardiology, 2022

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."