Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.E596*
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L1CAM

NM_001278116.2:p.E596*

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

Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review.

Wang R et al.

Experimental and Therapeutic Medicine, 2021

Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.

Weller S et al.

Human Mutation, 2001

Erratum: finckh U, Schroder J, ressler B, veske A, gal A. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. Am J med genet 92:40-46

Ghadami M et al.

American Journal of Medical Genetics, 2000

Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.

Finckh U et al.

American Journal of Medical Genetics, 2000

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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."