Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.M450Splc
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BTK

NM_000061.3:p.M450Splc

Associated Papers

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index

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

Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia.

Lee PP et al.

Journal of Clinical Immunology, 2010

Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.

Yip KL et al.

Human Mutation, 2000

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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."