Varaico: Literature-Extracted Genetic Variants

Gene:SNAPIN
Variant:p.R55W
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SNAPIN

NM_012437.6:p.R55W

Associated Papers

BORC assemblies integrate BLOC-1 subunits to diversify endosomal trafficking functions.

de Araujo MEG et al.

Proceedings of the National Academy of Sciences of the United States of America, 2026

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."