Varaico: Literature-Extracted Genetic Variants

Gene:TBCD
Variant:p.R323*
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TBCD

NM_005993.5:p.R323*

Associated Papers

Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.

Thompson L et al.

Frontiers in Pediatrics, 2024

38440187 (PubMed )
Supplement: Table3.xlsx › Sheet1

Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.

Sanford EF et al.

Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."