Varaico: Literature-Extracted Genetic Variants

Gene:MANF
Variant:p.A13G
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MANF

NM_006010.6:p.A13G

Associated Papers

Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy.

Happ HC et al.

Biorxiv : the Preprint Server for Biology, 2023

Crystal structure of NADP(H)-dependent 1,5-anhydro-D-fructose reductase from Sinorhizobium morelense at 2.2 A resolution: construction of a NADH-accepting mutant and its application in rare sugar synthesis.

Dambe TR et al.

Biochemistry, 2006

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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."