ESR1 c.283_284delinsTA ;(p.G95*)

Variant ID: 6-152129330-GG-TA

NM_000125.3(ESR1):c.283_284delinsTA;(p.G95*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).

Plos One
Cox, Allison J AJ; Darbro, Benjamin W BW; Laxer, Ronald M RM; Velez, Gabriel G; Bing, Xinyu X; Finer, Alexis L AL; Erives, Albert A; Mahajan, Vinit B VB; Bassuk, Alexander G AG; Ferguson, Polly J PJ
Publication Date: 2017

Variant appearance in text: ESR: G95*
PubMed Link: 28301468
Variant Present in the following documents:
  • Main text
  • pone.0169687.pdf
View BVdb publication page