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A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant |
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| Authors: | Bolze Alexandre Abhyankar Avinash Grant Audrey V Patel Bhavi Yadav Ruchi Byun Minji Caillez Daniel Emile Jean-Francois Pastor-Anglada Marçal Abel Laurent Puel Anne Govindarajan Rajgopal de Pontual Loic Casanova Jean-Laurent |
| Affiliation: | St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America. alexandre.bolze@gmail.com |
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| 本文献已被 PubMed 等数据库收录！ | |