Varaico: Literature-Extracted Genetic Variants

Gene:BTK
Variant:p.S543P
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BTK

NM_000061.3:p.S543P

Associated Papers

[Genetic study of an X-linked agammaglobulinemia pedigree caused by an BTK mutation].

Wei C et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

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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."