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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADAM8

Variant:p.D474N

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ADAM8

NM_001109.5:p.D474N

hg38:chr10:133271025 C>T

Associated Papers

Glaucoma-associated Optineurin mutations increase transcellular degradation of mitochondria in a vertebrate optic nerve.

Jeong Y et al.

Elife, 2025

40795095 (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."