Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.Y750insFs
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L1CAM

NM_001278116.2:p.Y750insFs

Associated Papers

X-Linked Hereditary Hydrocephalus Diagnosed in the Fetal Period With Adducted Thumb and a Novel L1CAM Variant: A Case Report.

Horiuchi R et al.

Clinical Case Reports, 2025

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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."