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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SACM1L

Variant:p.G258E

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SACM1L

NM_014016.5:p.G258E

hg38:chr3:45722876 G>A

Associated Papers

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.

Krebs CE et al.

Human Mutation, 2013

23804563 (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."