Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.D186fs
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IKZF1

NM_006060.6:p.D186fs

Associated Papers

Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS.

Yilmaz E et al.

Journal of Pediatric Hematology/oncology, 2021

Germline IKZF1 mutations and their impact on immunity: IKAROS-associated diseases and pathophysiology.

Kuehn HS et al.

Expert Review of Clinical Immunology, 2021

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.

Kuehn HS et al.

Blood, 2021

IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity.

Kuehn HS et al.

Journal of Clinical Immunology, 2021

Recent advances in genetic predisposition to pediatric acute lymphoblastic leukemia.

Bloom M et al.

Expert Review of Hematology, 2020

Genetic defects in hematopoietic transcription factors and predisposition to acute lymphoblastic leukemia.

Gocho Y et al.

Blood, 2019

Genetic Predisposition to Childhood Cancer in the Genomic Era.

Plon SE et al.

Annual Review of Genomics and Human Genetics, 2019

Somatic and germline genomics in paediatric acute lymphoblastic leukaemia.

Pui CH et al.

Nature Reviews. Clinical Oncology, 2019

Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia.

Churchman ML et al.

Cancer Cell, 2018

It's ALL in the Family: IKZF1 and Hereditary Leukemia.

Kamihara J et al.

Cancer Cell, 2018

Genes at the Crossroad of Primary Immunodeficiencies and Cancer.

Derpoorter C et al.

Frontiers in Immunology, 2018

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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."