GAA c.742dup ;(p.L248Pfs*82)

Variant ID: 17-78081404-G-GC

NM_000152.3(GAA):c.742dup;(p.L248Pfs*82)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.

Journal Of Clinical Medicine
Sánchez-Iglesias, Sofía S; Fernández-Pombo, Antía A; Cobelo-Gómez, Silvia S; Hermida-Ameijeiras, Álvaro Á; Alarcón-Martínez, Helena H; Domingo-Jiménez, Rosario R; Ruíz Riquelme, Alejandro Iván AI; Requena, Jesús R JR; Araújo-Vilar, David D
Publication Date: 2021-04-01

Variant appearance in text: GAA: 742dupC
PubMed Link: 33916074
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.

Journal Of Hematology & Oncology
Ramassone, Alice A; D'Argenio, Andrea A; Veronese, Angelo A; Basti, Alessio A; Soliman, Shimaa Hassan AbdelAziz SHA; Volinia, Stefano S; Bassi, Cristian C; Pagotto, Sara S; Ferracin, Manuela M; Lupini, Laura L; Saccenti, Elena E; Balatti, Veronica V; Pepe, Felice F; Rassenti, Laura Z LZ; Innocenti, Idanna I; Autore, Francesco F; Marzetti, Laura L; Mariani-Costantini, Renato R; Kipps, Thomas J TJ; Negrini, Massimo M; Laurenti, Luca L; Visone, Rosa R
Publication Date: 2019-11-19

Variant appearance in text: GAA: 742dup
PubMed Link: 31744508
Variant Present in the following documents:
  • 13045_2019_802_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page