ADAR c.3633G>T ;(p.W1211C)

Variant ID: 1-154557330-C-A

NM_001111.4(ADAR):c.3633G>T;(p.W1211C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravenscroft, Thomas A TA; Phillips, Jennifer B JB; Fieg, Elizabeth E; Bajikar, Sameer S SS; Peirce, Judy J; Wegner, Jeremy J; Luna, Alia A AA; Fox, Eric J EJ; Yan, Yi-Lin YL; Rosenfeld, Jill A JA; Zirin, Jonathan J; Kanca, Oguz O; , ; Benke, Paul J PJ; Cameron, Eric S ES; Strehlow, Vincent V; Platzer, Konrad K; Jamra, Rami Abou RA; Klöckner, Chiara C; Osmond, Matthew M; Licata, Thomas T; Rojas, Samantha S; Dyment, David D; Chong, Josephine S C JSC; Lincoln, Sharyn S; Stoler, Joan M JM; Postlethwait, John H JH; Wangler, Michael F MF; Yamamoto, Shinya S; Krier, Joel J; Westerfield, Monte M; Bellen, Hugo J HJ
Publication Date: 2021-10

Variant appearance in text: ADAR: W1211C
PubMed Link: 34113007
Variant Present in the following documents:
  • Main text
  • nihms-1717830.pdf
View BVdb publication page