Papers: 10.1002/jmd2.12078

https://doi.org/10.1002/jmd2.12078

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

Cited by: 5
Author(s): Gloria Muñoz, David García-Seisdedos, Crina Ciubotariu, Miguel Piris-Villaespesa, Marta Gandía, Fernando Martín-Moro, Luis González Gutiérrez-Solana, Marta Morado, Javier López‐Jiménez, Antonio Sánchez-Herranz, Jesús Villarrubia, Francisco J. del Castillo
Published: over 6 years ago

Software Mentions 1

pypi: mutalyzer
Mutalyzer HGVS variant description tools.
Papers that mentioned: 2
Very Likely Science (80)