Varaico: Literature-Extracted Genetic Variants

Gene:HSPBP1
Variant:p.E312insFs
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HSPBP1

NM_012267.5:p.E312insFs

Associated Papers

SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex.

Inaguma Y et al.

Embo Molecular Medicine, 2014

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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."