PRRT2 c.914G>A ;(p.G305E)

Variant ID: 16-29825688-G-A

NM_145239.2(PRRT2):c.914G>A;(p.G305E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children.

Frontiers In Pediatrics
Luo, Han-Yu HY; Xie, Ling-Ling LL; Hong, Si-Qi SQ; Li, Xiu-Juan XJ; Li, Mei M; Hu, Yue Y; Ma, Jian-Nan JN; Wu, Peng P; Zhong, Min M; Cheng, Min M; Li, Ting-Song TS; Jiang, Li L
Publication Date: 2021

Variant appearance in text: ICCA: 914G>A
PubMed Link: 34041212
Variant Present in the following documents:
  • Main text
  • fped-09-676616.pdf
View BVdb publication page