Publications:

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.

Jimd Reports

Muñoz, Gloria G; García-Seisdedos, David D; Ciubotariu, Crina C; Piris-Villaespesa, Miguel M; Gandía, Marta M; Martín-Moro, Fernando F; Gutiérrez-Solana, Luis G LG; Morado, Marta M; López-Jiménez, Javier J; Sánchez-Herranz, Antonio A; Villarrubia, Jesús J; Del Castillo, Francisco J FJ

Publication Date: 2020-01

Variant appearance in text: KIT: N370S

PubMed Link: 32071839

Variant Present in the following documents:

• Main text
• JMD2-51-53.pdf

View BVdb publication page

Functional analysis of 11 novel GBA alleles.

European Journal Of Human Genetics : Ejhg

Malini, Erika E; Grossi, Serena S; Deganuto, Marta M; Rosano, Camillo C; Parini, Rossella R; Dominisini, Silvia S; Cariati, Roberta R; Zampieri, Stefania S; Bembi, Bruno B; Filocamo, Mirella M; Dardis, Andrea A

Publication Date: 2014-04

Variant appearance in text: KIT: N370S

PubMed Link: 24022302

Variant Present in the following documents:

• Main text

View BVdb publication page