Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.W754*
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L1CAM

NM_001278116.2:p.W754*

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

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

Weller S et al.

Human Mutation, 2001

Neural cell recognition molecule L1: from cell biology to human hereditary brain malformations.

Brümmendorf T et al.

Current Opinion in Neurobiology, 1998

Nine novel L1 CAM mutations in families with X-linked hydrocephalus.

MacFarlane JR et al.

Human Mutation, 1997

L1-associated diseases: clinical geneticists divide, molecular geneticists unite.

Fransen E et al.

Human Molecular Genetics, 1997

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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."