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FBN1 c.2648G>T ;(p.W883L)
Variant ID: 15-48787349-C-A
NM_000138.4(
FBN1
):c.2648G>T;(p.W883L)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Immune cell profiling of the cerebrospinal fluid enables the characterization of the brain metastasis microenvironment.
Nature Communications
Rubio-Perez, Carlota C; Planas-Rigol, Ester E; Trincado, Juan L JL; Bonfill-Teixidor, Ester E; Arias, Alexandra A; Marchese, Domenica D; Moutinho, Catia C; Serna, Garazi G; Pedrosa, Leire L; Iurlaro, Raffaella R; Martínez-Ricarte, Francisco F; Escudero, Laura L; Cordero, Esteban E; Cicuendez, Marta M; Ruiz, Sara S; Parra, Genís G; Nuciforo, Paolo P; Gonzalez, Josep J; Pineda, Estela E; Sahuquillo, Juan J; Tabernero, Josep J; Heyn, Holger H; Seoane, Joan J
Publication Date: 2021-03-08
Variant appearance in text: FBN1: W883L
PubMed Link:
33686071
Variant Present in the following documents:
41467_2021_21789_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page