NRDE2 c.65-1254T>A

Variant ID: 14-90785711-A-T

NM_017970.3(NRDE2):c.65-1254T>A

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia.

Genes
Mellone, Simona S; Bertelli, Enrica E; Roviglione, Barbara B; Vurchio, Denise D; Ronzani, Sara S; Secco, Andrea A; Felici, Enrico E; Strozzi, Mariachiara Martina MM; Schena, Federico F; Giordano, Mara M
Publication Date: 2022-11-23

Variant appearance in text: rs11845372
PubMed Link: 36553457
Variant Present in the following documents:
  • Main text
  • genes-13-02190.pdf
View BVdb publication page