Projects: pypi: mutalyzer
https://packages.ecosyste.ms/registries/pypi.org/packages/mutalyzer
Mutalyzer HGVS variant description tools.
8 versions
Latest release: almost 3 years ago
1 dependent package
26 downloads last month
Enhanced Analysis
Repository Activity:
Repository Owner:
Mutalyzer (organization)
HGVS variant nomenclature checker
HGVS variant nomenclature checker
README Analysis:
Science Score: 80/100
Starting Score: 100 points
Bonuses:
Penalties:
-
-10
PyPI ecosystem
General-purpose ecosystem -
-10
No science terms in description
No scientific terms found in description
Very Likely Science (80)
Papers Mentioning mutalyzer 2
10.1002/mgg3.88
Selected reaction monitoring as an effective method for reliable quantification of disease‐associated proteins in maple syrup urine diseaseCited by: 11
Author(s): Paula Fernández‐Guerra, Rune Isak Dupont Birkler, Begoña Merinero, Magdalena Ugarte, Niels Gregersen, Pilar Rodríguez‐Pombo, Peter Bross, Johan Palmfeldt
Software Mentions: 1
Published: about 12 years ago
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 panelCited 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
Software Mentions: 1
Published: over 6 years ago