Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN3
Variant:p.A419V
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MCOLN3

NM_018298.11:p.A419V

Associated Papers

The TRPML3 channel: from gene to function.

Noben-Trauth K

Advances in Experimental Medicine and Biology, 2011

Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype.

Kim HJ et al.

The Journal of Biological Chemistry, 2007

A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse.

Grimm C et al.

Proceedings of the National Academy of Sciences of the United States of America, 2007

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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."