Varaico: Literature-Extracted Genetic Variants

Gene:ATP6AP1
Variant:p.S335C
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ATP6AP1

NM_001183.6:p.S335C

Associated Papers

Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.

McAllister B et al.

Nature Neuroscience, 2022

Discovery of the DIGIRR gene from teleost fish: a novel Toll-IL-1 receptor family member serving as a negative regulator of IL-1 signaling.

Gu YF et al.

Journal of Immunology (baltimore, Md. : 1950), 2011

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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."