Varaico: Literature-Extracted Genetic Variants

Gene:SIGMAR1
Variant:p.L14L
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SIGMAR1

NM_005866.4:p.L14L

Associated Papers

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.

Horga A et al.

Neurology, 2016

27629094 (PubMed )
Supplement: supp_WNL.0000000000003212_Supplementary_Material.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."