Associated Papers
Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.
Airoldi M et al.
Biomolecules, 2025
Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study.
Popa-Fotea NM et al.
International Journal of Molecular Sciences, 2023
38139087 (PubMed )
Supplement: ijms-24-17244-s001.zip › ijms-2684600-supplementary.pdf
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
Jones EG et al.
Scientific Reports, 2019
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1
Mutation in JPH2 cause dilated cardiomyopathy.
Sabater-Molina M et al.
Clinical Genetics, 2016
Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy.
Guo Q et al.
Dna and Cell Biology, 2014
Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.
Wang Y et al.
Plos One, 2013
23840593 (PubMed )
Supplement: pone.0067087.s001.xls › Sheet1
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