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: 10.1371/journal.pgen.1008625

https://doi.org/10.1371/journal.pgen.1008625

A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

Cited by: 15
Author(s): Pierre Costé de Bagneaux, Leonie von Elsner, Tatjana Bierhals, Marta Campiglio, Jessika Johannsen, Gerald J. Obermair, Maja Hempel, Bernhard E. Flucher, Kerstin Kutsche
Published: over 4 years ago

Software Mentions 3

cran: ExomeDepth
Calls Copy Number Variants from Targeted Sequence Data
Papers that mentioned: 112
pypi: M
M
Papers that mentioned: 418
pypi: PACE
Data Quality of Experimental Data
Papers that mentioned: 13,779