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/hgv.2017.4

https://doi.org/10.1038/hgv.2017.4

Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype

Cited by: 2
Author(s): Sek‐Shir Cheong, Sarah Hull, Benjamin T. Jones, Ravinder K. Chana, Nicole Thornton, Vincent Plagnol, Anthony T. Moore, Alison J. Hardcastle
Published: over 7 years ago

Software Mentions 1

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