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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZSCAN10

Variant:p.Q486*

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ZSCAN10

NM_032805.3:p.Q486*

hg38:chr16:3089978 G>A

Associated Papers

ZSCAN10-Deficiency Mimicking Goldenhar Syndrome.

Alfalah AH et al.

American Journal of Medical Genetics. Part A, 2025

40605417 (PubMed )

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.

Laugwitz L et al.

Brain : a Journal of Neurology, 2024

38386308 (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."