GLA c.1077_1120del ;(p.G360Rfs*5)

Variant ID: X-100652967-TTACCCAGGGAAGCAACTGCGATGGTATAAGAGCGAGGTCCACCA-T

NM_000169.2(GLA):c.1077_1120del;(p.G360Rfs*5)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

Plos One
Pan, Xiaoxia X; Ouyang, Yan Y; Wang, Zhaohui Z; Ren, Hong H; Shen, Pingyan P; Wang, Weiming W; Xu, Yaowen Y; Ni, Liyan L; Yu, Xialian X; Chen, Xiaonong X; Zhang, Wen W; Yang, Li L; Li, Xiao X; Xu, Jing J; Chen, Nan N
Publication Date: 2016

Variant appearance in text: GLA: 1077_1120del
PubMed Link: 27560961
Variant Present in the following documents:
  • Main text
  • pone.0161330.pdf
View BVdb publication page