Varaico: Literature-Extracted Genetic Variants

Gene:LRSAM1
Variant:p.E680fs
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LRSAM1

NM_001005373.4:p.E680fs

Associated Papers

A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P.

Milella G et al.

Clinical Neurology and Neurosurgery, 2024

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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."