Ecosyste.ms: Papers
An open API service providing mapping between scientific papers and software projects that are mentioned in them.
All mentions data is based on the CZI Software Mentions dataset.
Papers: 10.1002/humu.24210
https://doi.org/10.1002/humu.24210
Bi‐allelic <i>KARS1</i> pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease
Cited by: 7
Author(s): Gerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, Jennifer Sullivan, Vandana Shashi, Tamison Jewett, Tara H. Stamper, Silvia Maitz, Francesco Canonico, Anya Revah‐Politi, Gabriel Kupchik, Kwame Anyane‐Yeboa, Vimla S. Aggarwal, Andreas Benneche, Eirik Bratland, Siren Berland, Felice D’Arco, César Augusto Pinheiro Ferreira Alves, Adeline Vanderver, Daniela Longo, Enrico Bertini, Annalaura Torella, Vincenzo Nigro, Alessandra D’Amico, Marjo S. van der Knaap, P Goffrini, Nicola Brunetti‐Pierri
Published: over 3 years ago