Additional file 4: Figure 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 |
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| Rok vydání: | 2017 |
| DOI: | 10.6084/m9.figshare.c.3794545_d4.v1 |
| Popis: | Pedigree and Co-segregation. Familial pedigree and electropherograms of the c.1352_1353delAG (p.E451Vfs*66) alteration in the proband and additional family members. Shaded shapes indicate affected individuals. Asterisk (*) indicates whole exome sequencing performed. (DOCX 210 kb) |
| Databáze: | OpenAIRE |
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