RPS6KB2 c.859G>C ;(p.A287P)

Variant ID: 11-67200871-G-C

NM_003952.2(RPS6KB2):c.859G>C;(p.A287P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency.

Archives Of Endocrinology And Metabolism
Bonamichi, Beatriz D S F BD; Santiago, Stella L M SL; Bertola, Débora R DR; Kim, Chong A CA; Alonso, Nivaldo N; Mendonca, Berenice B BB; Bachega, Tania A S S TA; Gomes, Larissa G LG
Publication Date: 2016-10

Variant appearance in text: KLS: A287P
PubMed Link: 27737328
Variant Present in the following documents:
  • Main text
  • 2359-4292-aem-60-05-0500.pdf
View BVdb publication page