Varaico: Literature-Extracted Genetic Variants

Gene:LRSAM1
Variant:p.P707_L708insFs
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LRSAM1

NM_001005373.4:p.P707_L708insFs

Associated Papers

Further delineation of LRSAM1-related Charcot-Marie-Tooth type 2P with parkinsonism.

Ducatel P et al.

European Journal of Medical Genetics, 2025

A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease.

Aerts MB et al.

Annals of Clinical and Translational Neurology, 2016

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.

Weterman MA et al.

Human Molecular Genetics, 2012

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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."