Additional file 1: Table S1. of Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration
| Autor: | Zรถe Powis, Hart, Alexa, Cherny, Sara, Petrik, Igor, Palmaer, Erika, Tang, Sha, Jones, Carolyn |
|---|---|
| Rok vydání: | 2017 |
| DOI: | 10.6084/m9.figshare.c.3794545_d1.v1 |
| Popis: | Run Metrics for family trio. Read depth values exclude the following: reads of low quality, reads that do not align uniquely to the exome, and PCR duplicates. (DOCX 22 kb) |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|