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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP2C2

Variant:p.S81W

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ATP2C2

NM_014861.4:p.S81W

hg38:chr16:84405159 C>G

Associated Papers

De novo variants in DENND5B cause a neurodevelopmental disorder.

Scala M et al.

American Journal of Human Genetics, 2024

38387458 (PubMed )

Supplement: mmc3.xlsx › Foglio1

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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."