Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.Y589H
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L1CAM

NM_001278116.2:p.Y589H

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

[Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene].

Wu Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

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

Shieh C et al.

Neurology. Genetics, 2015

CRASH syndrome: does it teach us about neurotrophic functions of cell adhesion molecules?

Zhang L

The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2010

Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases.

Senat MV et al.

Prenatal Diagnosis, 2001

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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."