Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.P263insFs
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MECP2

NM_001110792.2:p.P263insFs

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

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.

Pascual-Alonso A et al.

Human Genomics, 2023

37710353 (PubMed )
Supplement: 40246_2023_532_MOESM4_ESM.xlsx › patient_cohort

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

De La Vega FM et al.

Genome Medicine, 2021

34645491 (PubMed )
Supplement: 13073_2021_965_MOESM1_ESM.xlsx › Table_S1

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."