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 8 years ago

Software Mentions 1