PTEN c.1049C>T ;(p.T350I)

Variant ID: 10-89725066-C-T

NM_000314.4(PTEN):c.1049C>T;(p.T350I)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

Neurology
Schlüter, Agatha A; Rodríguez-Palmero, Agustí A; Verdura, Edgard E; Vélez-Santamaría, Valentina V; Ruiz, Montserrat M; Fourcade, Stéphane S; Planas-Serra, Laura L; Martínez, Juan José JJ; Guilera, Cristina C; Girós, Marisa M; Artuch, Rafael R; Yoldi, María Eugenia ME; O'Callaghan, Mar M; García-Cazorla, Angels A; Armstrong, Judith J; Marti, Itxaso I; Mondragón Rezola, Elisabet E; Redin, Claire C; Mandel, Jean Louis JL; Conejo, David D; Sierra-Córcoles, Concepción C; Beltrán, Sergi S; Gut, Marta M; Vázquez, Elida E; Del Toro, Mireia M; Troncoso, Mónica M; Pérez-Jurado, Luis A LA; Gutiérrez-Solana, Luis G LG; López de Munain, Adolfo A; Casasnovas, Carlos C; Aguilera-Albesa, Sergio S; Macaya, Alfons A; Pujol, Aurora A; ,
Publication Date: 2022-03-01

Variant appearance in text: PTEN: Thr350Ile
PubMed Link: 35012964
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2021173779.pdf
View BVdb publication page