← New search
Variant profile

c.1220-8_1227dup

c.1220-8_1227dup · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
1Associated gene records
0Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
CHRNEHGNC:196611

Associated phenotype records

Co-mentioned in the same publications

No retained phenotype associations.

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Population record11

Supporting publications

1 records
  1. 2023Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up.BiomedicinesPubMed ↗