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: 10.1080/09537104.2017.1283011

https://doi.org/10.1080/09537104.2017.1283011

Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function

Cited by: 9
Author(s): Annabel Maclachlan, G. Dolan, Charlotte Grimley, Steve P. Watson, Neil V. Morgan
Published: over 7 years ago

Software Mentions 1

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