Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN1
Variant:p.L125P
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MCOLN1

NM_020533.3:p.L125P

Associated Papers

A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease.

Edgar JR et al.

Acta Neuropathologica Communications, 2020

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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."