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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BTK

Variant:p.Q103_V104Splc

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BTK

NM_000061.3:p.Q103_V104Splc

hg38:chrX:101370081 T>C

Associated Papers

[Late diagnosis of WHIM sydrome].

Paolini MV et al.

Medicina, 2018

29659363 (PubMed )

Clinical and molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina.

Basile N et al.

Journal of Clinical Immunology, 2009

18677443 (PubMed )

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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."