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DICER1 c.5364+1187T>G
Variant ID: 14-95559038-A-C
NM_177438.2(
DICER1
):c.5364+1187T>G
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:
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Frontiers In Genetics
Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S
Publication Date: 2022
Variant appearance in text: DICER1: 5364+1187T>G
PubMed Link:
35754842
Variant Present in the following documents:
DataSheet1.xlsx, sheet 1
View BVdb publication page
Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor.
Journal Of Clinical Medicine
De Paolis, Elisa E; Paragliola, Rosa Maria RM; Concolino, Paola P
Publication Date: 2021-04-23
Variant appearance in text: Dicer: 5364+1187T>G
PubMed Link:
33922805
Variant Present in the following documents:
Main text
View BVdb publication page