ADAR c.2159T>C ;(p.V720A)

Variant ID: 1-154569392-A-G

NM_001111.4(ADAR):c.2159T>C;(p.V720A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

Frontiers In Neurology
D'Amore, Angelica A; Tessa, Alessandra A; Casali, Carlo C; Dotti, Maria Teresa MT; Filla, Alessandro A; Silvestri, Gabriella G; Antenora, Antonella A; Astrea, Guja G; Barghigiani, Melissa M; Battini, Roberta R; Battisti, Carla C; Bruno, Irene I; Cereda, Cristina C; Dato, Clemente C; Di Iorio, Giuseppe G; Donadio, Vincenzo V; Felicori, Monica M; Fini, Nicola N; Fiorillo, Chiara C; Gallone, Salvatore S; Gemignani, Federica F; Gigli, Gian Luigi GL; Graziano, Claudio C; Guerrini, Renzo R; Gurrieri, Fiorella F; Kariminejad, Ariana A; Lieto, Maria M; Marques LourenḈo, Charles C; Malandrini, Alessandro A; Mandich, Paola P; Marcotulli, Christian C; Mari, Francesco F; Massacesi, Luca L; Melone, Maria A B MAB; Mignarri, Andrea A; Milone, Roberta R; Musumeci, Olimpia O; Pegoraro, Elena E; Perna, Alessia A; Petrucci, Antonio A; Pini, Antonella A; Pochiero, Francesca F; Pons, Maria Roser MR; Ricca, Ivana I; Rossi, Salvatore S; Seri, Marco M; Stanzial, Franco F; Tinelli, Francesca F; Toscano, Antonio A; Valente, Mariarosaria M; Federico, Antonio A; Rubegni, Anna A; Santorelli, Filippo Maria FM
Publication Date: 2018

Variant appearance in text: ADAR: 2159T>C; Val720Ala
PubMed Link: 30564185
Variant Present in the following documents:
  • Main text
  • fneur-09-00981.pdf
View BVdb publication page