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: 10.3892/mmr.2019.10303

https://doi.org/10.3892/mmr.2019.10303

Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay

Cited by: 7
Author(s): Markéta Wayhelová, Jan Oppelt, Jan Smetana, Eva Hladílková, Hana Filková, Eva Makaturová, Petra Nikolova, Rastislav Beharka, Renata Gaillyová, Petr Kuglík
Published: over 5 years ago

Software Mentions 1

bioconductor: VariantAnnotation
Annotation of Genetic Variants
Papers that mentioned: 47