Varaico: Literature-Extracted Genetic Variants

Gene:SYNJ1
Variant:p.E872*
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SYNJ1

NM_203446.3:p.E872*

Associated Papers

Upregulation of Heat-Shock Protein (hsp)-27 in a Patient with Heterozygous SPG11 c.1951C>T and SYNJ1 c.2614G>T Mutations Causing Clinical Spastic Paraplegia.

García-Carmona JA et al.

Genes, 2023

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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."