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: 10.1186/s12881-020-01121-y

https://doi.org/10.1186/s12881-020-01121-y

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report

Cited by: 6
Author(s): Arthur Jacob, Jennifer Pasquier, Raphaël Carapito, Frédéric Auradé, Anne Molitor, Philippe Froguel, Khalid Fakhro, Najeeb Halabi, Géraldine Viot, Seiamak Bahram, Arash Rafii
Published: about 4 years ago

Software Mentions 1

pypi: bwa

Bwa: Simple Notification Sender(Discord, Slack, Gmail and Telegram)
Papers that mentioned: 989