Varaico: Literature-Extracted Genetic Variants

Gene:SIGMAR1
Variant:p.N85S
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SIGMAR1

NM_005866.4:p.N85S

Associated Papers

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS

Novel missense alleles of SIGMAR1 as tools to understand emerin-dependent gene silencing in response to cocaine.

Arun AS et al.

Experimental Biology and Medicine (maywood, N.j.), 2019

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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."