Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients.
Saleem T et al.
Biomed Research International, 2021
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.
Skarp S et al.
Plos One, 2018
30157244 (PubMed )
Supplement: pone.0203313.s001.xlsx › Family12_SNPs
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.
Bailey JN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Subaran RL et al.
Epilepsia, 2015
DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.
Bai D et al.
Epilepsia, 2009
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
Annesi F et al.
Epilepsia, 2007
Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families.
Pinto D et al.
Epilepsia, 2006
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