PRRT2 c.577G>T ;(p.E193*)

Variant ID: 16-29824952-G-T

NM_145239.2(PRRT2):c.577G>T;(p.E193*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.

Frontiers In Genetics
Graziola, Federica F; Garone, Giacomo G; Stregapede, Fabrizia F; Bosco, Luca L; Vigevano, Federico F; Curatolo, Paolo P; Bertini, Enrico E; Travaglini, Lorena L; Capuano, Alessandro A
Publication Date: 2019

Variant appearance in text: PRRT2: 577G>T; E193X
PubMed Link: 31737037
Variant Present in the following documents:
  • Main text
  • fgene-10-01026.pdf
View BVdb publication page