COL4A5 c.75G>A ;(p.E25=)

Variant ID: X-107683430-G-A

NM_033380.2(COL4A5):c.75G>A;(p.E25=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


PEA15 loss of function and defective cerebral development in the domestic cat.

Plos Genetics
Graff, Emily C EC; Cochran, J Nicholas JN; Kaelin, Christopher B CB; Day, Kenneth K; Gray-Edwards, Heather L HL; Watanabe, Rie R; Koehler, Jey W JW; Falgoust, Rebecca A RA; Prokop, Jeremy W JW; Myers, Richard M RM; Cox, Nancy R NR; Barsh, Gregory S GS; Martin, Douglas R DR; ,
Publication Date: 2020-12

Variant appearance in text: COL4A5: E25E
PubMed Link: 33290415
Variant Present in the following documents:
  • Main text
View BVdb publication page