Additional file 3: Table S3. 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

Powis, Zรถe; Hart, Alexa; Cherny, Sara; Petrik, Igor; Palmaer, Erika; Tang, Sha; Jones, Carolyn

doi:10.6084/m9.figshare.c.3794545_D3.v1

12881_2017_426_MOESM3_ESM.docx (18.19 kB)

Additional file 3: Table S3. 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

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posted on 2017-06-02, 05:00 authored by Zรถe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang, Carolyn Jones

List of candidate genes/alterations resulting from inheritance model filtering and the manual removal of NGS artifacts and polymorphisms*. (DOCX 18 kb)

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RBM10 protein Human Exome Clinical diagnostic sequencing TARP syndrome Oligodactyly

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Additional file 3: Table S3. 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

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