Varaico: Literature-Extracted Genetic Variants

Gene:LAMB1
Variant:p.C460R
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LAMB1

NM_002291.3:p.C460R

Associated Papers

Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype-phenotype correlations and suggests its role in glial cells.

Yasuda R et al.

Human Molecular Genetics, 2025

Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event.

Toutouna L et al.

American Journal of Medical Genetics. Part A, 2023

End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.

Aloui C et al.

Annals of Neurology, 2021

Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation.

Yasuda R et al.

Neurology. Genetics, 2020

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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."