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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPS6KB1

Variant:p.C90S

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RPS6KB1

NM_003161.4:p.C90S

hg38:chr17:59912760 T>A

Associated Papers

SNAP-25 disease variants affect synaptic transmission by destabilizing SNARE complexes within a multimeric SNARE ring.

Vold VA et al.

Cell Reports, 2026

41579375 (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."