Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.A593P
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L1CAM

NM_001278116.2:p.A593P

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG1

Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies.

Shieh C et al.

Neurology. Genetics, 2015

A novel L1CAM mutation in a fetus detected by prenatal diagnosis.

Piccione M et al.

European Journal of Pediatrics, 2010

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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."