ZMIZ1 c.-50+2514C>G

Variant ID: 10-80924404-C-G

NM_020338.4(ZMIZ1):c.-50+2514C>G

This variant was identified in 1 publication

View GRCh38 version.




Publications:


An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.

European Journal Of Human Genetics : Ejhg
Rawlins, Lettie E LE; Jones, Hannah H; Wenger, Olivia O; Aye, Myat M; Fasham, James J; Harlalka, Gaurav V GV; Chioza, Barry A BA; Miron, Alexander A; Ellard, Sian S; Wakeling, Matthew M; Crosby, Andrew H AH; Baple, Emma L EL
Publication Date: 2019-04

Variant appearance in text: rs1769756
PubMed Link: 30622327
Variant Present in the following documents:
  • Main text
View BVdb publication page