Varaico: Literature-Extracted Genetic Variants

Gene:ALPI
Variant:p.S276C
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ALPI

NM_001631.5:p.S276C

Associated Papers

Structural basis of inactivation of human counterpart of mouse motor neuron degeneration 2 mutant in serine protease HtrA2.

Wagh AR et al.

Bioscience Reports, 2018

Loss-of-function analysis suggests that Omi/HtrA2 is not an essential component of the PINK1/PARKIN pathway in vivo.

Yun J et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008

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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."