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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:THBD

Variant:p.D244Y

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THBD

NM_000361.3:p.D244Y

hg38:chr20:23048775 C>A

Associated Papers

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.

Asano T et al.

Science Immunology, 2021

34413140 (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."