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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARHGEF1

Variant:p.R385Q

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ARHGEF1

NM_004706.4:p.R385Q

hg38:chr19:41898474 G>A

Associated Papers

Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.

Kuehn HS et al.

The Journal of Clinical Investigation, 2024

38015619 (PubMed )

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