Varaico: Literature-Extracted Genetic Variants

Gene:LRSAM1
Variant:p.C690R
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LRSAM1

NM_001005373.4:p.C690R

Associated Papers

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.

Ngo KJ et al.

Human Mutation, 2020

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Fogel BL et al.

Jama Neurology, 2014

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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."