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: 10.1038/s41598-020-73557-4

https://doi.org/10.1038/s41598-020-73557-4

Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy

Cited by: 8
Author(s): Marie Anne-Catherine Neumann, Dajana Großmann, Simone Schimpf-Linzenbold, Danit Dayan, Katarína Štingl, Reut Ben-Menachem, Ophry Pines, François Massart, Sylvie Delcambre, Jenny Ghelfi, Jill Bohler, Tim M. Strom, Amit Kessel, Abdussalam Azem, Lüdger Schöls, Anne Grünewald, Bernd Wissinger, Rejko Krüger
Published: about 4 years ago

Software Mentions 1

cran: ExomeDepth
Calls Copy Number Variants from Targeted Sequence Data
Papers that mentioned: 112