Varaico: Literature-Extracted Genetic Variants

Gene:RELN
Variant:p.S2243G
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RELN

NM_005045.4:p.S2243G

Associated Papers

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Friederich MW et al.

Nature Communications, 2018

30283131 (PubMed )
Supplement: 41467_2018_6250_MOESM1_ESM.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."