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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SYN1

Variant:p.P525L

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SYN1

NM_006950.3:p.P525L

hg38:chrX:47574410 G>A

Associated Papers

Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons.

Shum C et al.

Stem Cell Reports, 2024

38242131 (PubMed )

Supplement: mmc2.pdf

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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."