Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN1
Variant:p.D472E
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MCOLN1

NM_020533.3:p.D472E

Associated Papers

Identification of a single aspartate residue critical for both fast and slow calcium-dependent inactivation of the human TRPML1 channel.

Wu G et al.

The Journal of Biological Chemistry, 2018

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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."