PC c.332_339del ;(p.V111Gfs*10)

Variant ID: 11-66638934-CTGCATCTA-C

NM_001040716.1(PC):c.332_339del;(p.V111Gfs*10)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.

Frontiers In Endocrinology
Arriba, María M; Ezquieta, Begoña B
Publication Date: 2022

Variant appearance in text: PC: 332_339del
PubMed Link: 35422767
Variant Present in the following documents:
  • fendo-13-834549.pdf
View BVdb publication page



Testicular adrenal rest tumors in boys with 21-hydroxylase deficiency, timely diagnosis and follow-up.

Endocrine Connections
Kocova, Mirjana M; Janevska, Vesna V; Anastasovska, Violeta V
Publication Date: 2018-04

Variant appearance in text: PC: 332_339del
PubMed Link: 29531157
Variant Present in the following documents:
  • ec-7-544.pdf
View BVdb publication page