Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.L31P
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BTK

NM_000061.3:p.L31P

Associated Papers

Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.

Chen C et al.

World Journal of Pediatrics : Wjp, 2024

Disease-causing SAP mutants are defective in ligand binding and protein folding.

Li C et al.

Biochemistry, 2003

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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."