Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN3
Variant:p.H283R
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MCOLN3

NM_018298.11:p.H283R

Associated Papers

TRPML3.

Grimm C et al.

Handbook of Experimental Pharmacology, 2014

The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: cause and consequence.

Cuajungco MP et al.

Pflugers Archiv : European Journal of Physiology, 2008

A novel mode of TRPML3 regulation by extracytosolic pH absent in the varitint-waddler phenotype.

Kim HJ et al.

The Embo Journal, 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."