Estimating prevalence of rare genetic disease diagnoses using electronic health records in a children’s hospital
| Title: | Estimating prevalence of rare genetic disease diagnoses using electronic health records in a children’s hospital |
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| Authors: | Herr, Kate 1, Lu, Peixin 1, Diamreyan, Kessi 2, Xu, Huan 3, Mendonca, Eneida 1, 2, Weaver, K. Nicole 2, 3, 4, Chen, Jing 1, 2, 5, ∗ |
| Source: | In Human Genetics and Genomics Advances 10 October 2024 5(4) |
| Database: | ScienceDirect |
| ISSN: | 26662477 |
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| DOI: | 10.1016/j.xhgg.2024.100341 |
| Published in: | Human Genetics and Genomics Advances |
| Language: | English |