PIGC c.859G>T ;(p.E287*)

Variant ID: 1-172410904-C-A

NM_153747.1(PIGC):c.859G>T;(p.E287*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.

Diagnostics (Basel, Switzerland)
Varesio, Costanza C; Gana, Simone S; Asaro, Alessia A; Ballante, Elena E; Cabini, Raffaella Fiamma RF; Tartara, Elena E; Bagnaschi, Michela M; Pasca, Ludovica L; Valente, Marialuisa M; Orcesi, Simona S; Cereda, Cristina C; Veggiotti, Pierangelo P; Borgatti, Renato R; Valente, Enza Maria EM; De Giorgis, Valentina V
Publication Date: 2021-05-25

Variant appearance in text: PIGC: 859G>T; Glu287Ter
PubMed Link: 34070668
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00948.pdf
View BVdb publication page