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: 10.1101/mcs.a002873
https://doi.org/10.1101/mcs.a002873
Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case report
Cited by: 6
Author(s): Jaclyn B. Murry, Kalotina Machini, Ozge Ceyhan‐Birsoy, Amy Kritzer, Joel B. Krier, Matthew S. Lebo, Shawn Fayer, Casie A. Genetti, Grace E. VanNoy, Timothy W. Yu, Pankaj B. Agrawal, Richard B. Parad, Ingrid A. Holm, Amy L. McGuire, Robert C. Green, Alan H. Beggs, Heidi L. Rehm
Published: over 6 years ago