Varaico: Literature-Extracted Genetic Variants

Gene:CD247
Variant:p.E20Splc
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CD247

NM_198053.3:p.E20Splc

Associated Papers

Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome.

Staudacher O et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2023

Phenoidentical HLA-Related Hematopoietic Stem Cell Transplant Without Conditioning to Reconstitute a Patient with a Putative Loss-of-Function CARD11 Mutation.

Al-Rasheed B et al.

Journal of Clinical Immunology, 2020

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

Al-Mousa H et al.

The Journal of Allergy and Clinical Immunology, 2016

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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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."