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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARHGEF1

Variant:p.Q556_E557Splc

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ARHGEF1

NM_199002.2:p.Q556_E557Splc

hg38:chr19:41902783 G>T

Associated Papers

Loss of ARHGEF1 causes a human primary antibody deficiency.

Bouafia A et al.

The Journal of Clinical Investigation, 2019

30521495 (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."