AVP c.180G>T ;(p.A60=)

Variant ID: 20-3063765-C-A

NM_000490.4(AVP):c.180G>T;(p.A60=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.

Ebiomedicine
Blum, Werner F WF; Klammt, Jürgen J; Amselem, Serge S; Pfäffle, Heike M HM; Legendre, Marie M; Sobrier, Marie-Laure ML; Luton, Marie-Pierre MP; Child, Christopher J CJ; Jones, Christine C; Zimmermann, Alan G AG; Quigley, Charmian A CA; Cutler, Gordon B GB; Deal, Cheri L CL; Lebl, Jan J; Rosenfeld, Ron G RG; Parks, John S JS; Pfäffle, Roland W RW
Publication Date: 2018-10

Variant appearance in text: ADH: A60=
PubMed Link: 30266296
Variant Present in the following documents:
  • Main text
View BVdb publication page



Specificity of RCN1-mediated protein phosphatase 2A regulation in meristem organization and stress response in roots.

Plant Physiology
Blakeslee, Joshua J JJ; Zhou, Hong-Wei HW; Heath, Jeffrey T JT; Skottke, Kyle R KR; Barrios, Jorge A Rodriguez JA; Liu, Su-Yang SY; DeLong, Alison A
Publication Date: 2008-02

Variant appearance in text: ADH: A60A
PubMed Link: 18162590
Variant Present in the following documents:
  • Main text
View BVdb publication page