Varaico: Literature-Extracted Genetic Variants

Gene:LRSAM1
Variant:p.L708fs
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LRSAM1

NM_001005373.4:p.L708fs

Associated Papers

Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.

Reilich P et al.

Neuromuscular Disorders : Nmd, 2021

A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease.

Zhao G et al.

Journal of the Peripheral Nervous System : Jpns, 2018

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.

Hakonen JE et al.

Human Molecular Genetics, 2017

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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."