Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.Q747*
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L1CAM

NM_001278116.2:p.Q747*

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

Prenatal diagnosis of X-linked hydrocephalus in a family with a novel mutation in L1CAM gene.

Ochando I et al.

Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology, 2016

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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."