Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.D244Y
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GAPDH

NM_002046.7:p.D244Y

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

CHST6 mutation screening and endoplasmatic reticulum stress in macular corneal dystrophy.

Wang L et al.

Oncotarget, 2017

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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."