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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WDR83OS

Variant:p.R17Splc

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WDR83OS

NM_016145.4:p.R17Splc

hg38:chr19:12669353 C>A

Associated Papers

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

Barish S et al.

American Journal of Human Genetics, 2024

39471804 (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."