Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.N530fs
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BTK

NM_000061.3:p.N530fs

Associated Papers

Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.

Klippel C et al.

International Journal of Neonatal Screening, 2025

39846592 (PubMed )
Supplement: IJNS-11-00006-s001.zip › IJNS-3344349-supplementary.pdf

Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots.

Collins CJ et al.

Frontiers in Immunology, 2020

Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots.

Collins CJ et al.

Frontiers in Immunology, 2018

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