Varaico: Literature-Extracted Genetic Variants

Gene:SNAPIN
Variant:p.E31*
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SNAPIN

NM_012437.6:p.E31*

Associated Papers

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.

Yousaf H et al.

American Journal of Human Genetics, 2025

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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."