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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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