Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.G584Splc
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BTK

NM_000061.3:p.G584Splc

Associated Papers

An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia.

Nishimura A et al.

Journal of Clinical Immunology, 2023

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

35874699 (PubMed )
Supplement: Table_1.xlsx › Suppl_table_1

Haematopoietic Stem Cell Transplant for Norovirus-Induced Intestinal Failure in X-linked Agammaglobulinemia.

Shillitoe BMJ et al.

Journal of Clinical Immunology, 2021

Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India.

Rawat A et al.

Frontiers in Immunology, 2020

X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.

Aadam Z et al.

Journal of Clinical Immunology, 2016

Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.

Nakagawa N et al.

The Journal of Allergy and Clinical Immunology, 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."