Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.P300_E301delFs
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IL7R

NM_002185.5:p.P300_E301delFs

Associated Papers

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Jurgens JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38585811 (PubMed )
Supplement: media-3.xlsx › Sheet1

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Suratannon N et al.

Frontiers in Immunology, 2020

32373116 (PubMed )
Supplement: Table_1.xlsx › Table_E1_Previously_diagnosed

Identification of checkpoints in human T-cell development using severe combined immunodeficiency stem cells.

Wiekmeijer AS et al.

The Journal of Allergy and Clinical Immunology, 2016

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

Nijman IJ et al.

The Journal of Allergy and Clinical Immunology, 2014

IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.

Recher M et al.

Blood, 2011

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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."