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/s12881-019-0803-1

https://doi.org/10.1186/s12881-019-0803-1

A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly

Cited by: 20
Author(s): Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær, Sally Ann Lynch, Thomas Arnesen
Published: over 5 years ago

Software Mentions 1

pypi: PyMOL

Papers that mentioned: 8,266